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Search results 1 to 100 out of 133 for Hps3

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Categories

Hits by Category

Hits by Strain

Type Details Score
Gene
84343 | HPS3
Type: gene
Organism: human
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Gene
460767 | HPS3
Type: gene
Organism: chimpanzee
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Gene
485709 | HPS3
Type: gene
Organism: dog, domestic
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Gene
783104 | HPS3
Type: gene
Organism: cattle
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Gene
777758 | hps3
Type: gene
Organism: zebrafish
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Gene
712282 | HPS3
Type: gene
Organism: macaque, rhesus
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Gene
100493002 | hps3
Type: gene
Organism: frog, western clawed
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Gene
310288 | Hps3
Type: gene
Organism: rat
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Gene
425047 | HPS3
Type: gene
Organism: chicken
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Protein Coding Gene
MGI:2153839 | Hps3
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Domain
IPR017216 | HPS3
Type: Family
Description: The Hermansky-Pudlak syndrome 3 protein, also known as BLOC-2 complex member HPS3, is involved in early stages of melanosome biogenesis and maturation []. Hermansky-Pudlak syndrome 3 (HPS3) is a form of Hermansky-Pudlak syndrome, a genetically heterogeneous autosomal recessive disorder characterised by oculocutaneous albinism, bleeding due to platelet storage pool deficiency, and lysosomal storage defects [, ].
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Publication
- | J:124644
     
First Author: Karst SY
Year: 2007
Journal: MGI Direct Data Submission
Title: Cocoa 8 Jackson, a new spontaneous mouse mutation in the Hps3 gene
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Protein
Q91VB4
Organism: Mus musculus/domesticus
Length: 1002  
Fragment?: false
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Protein
Q8BZ55
Organism: Mus musculus/domesticus
Length: 1002  
Fragment?: false
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Protein
Q3TCR4
Organism: Mus musculus/domesticus
Length: 855  
Fragment?: true
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Protein
Q8BZK0
Organism: Mus musculus/domesticus
Length: 1002  
Fragment?: false
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Protein
Q3TAA3
Organism: Mus musculus/domesticus
Length: 870  
Fragment?: false
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Protein
E9PZY1
Organism: Mus musculus/domesticus
Length: 870  
Fragment?: false
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Publication
11455388 | -
First Author: Anikster Y
Year: 2001
Journal: Nat Genet
Title: Mutation of a new gene causes a unique form of Hermansky-Pudlak syndrome in a genetic isolate of central Puerto Rico.
Volume: 28
Issue: 4
Pages: 376-80
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Publication
11590544 | -
First Author: Huizing M
Year: 2001
Journal: Am J Hum Genet
Title: Hermansky-Pudlak syndrome type 3 in Ashkenazi Jews and other non-Puerto Rican patients with hypopigmentation and platelet storage-pool deficiency.
Volume: 69
Issue: 5
Pages: 1022-32
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Protein
Q8BX18
Organism: Mus musculus/domesticus
Length: 621  
Fragment?: false
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Protein
Q8BYV5
Organism: Mus musculus/domesticus
Length: 158  
Fragment?: false
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Publication
11592818 | J:101645
First Author: Huizing M
Year: 2001
Journal: Mol Genet Metab
Title: Characterization of the murine gene corresponding to human Hermansky-Pudlak syndrome type 3: exclusion of the Subtle gray (sut) locus.
Volume: 74
Issue: 1-2
Pages: 217-25
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Publication
14718540 | J:267139
First Author: Gautam R
Year: 2004
Journal: J Biol Chem
Title: The Hermansky-Pudlak syndrome 3 (cocoa) protein is a component of the biogenesis of lysosome-related organelles complex-2 (BLOC-2).
Volume: 279
Issue: 13
Pages: 12935-42
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Protein Coding Gene
MGP_CAROLIEiJ_G0024877 | -
Type: protein_coding_gene
Organism: Mus caroli
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Protein Coding Gene
MGP_129S1SvImJ_G0027098 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AJ_G0027058 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_AKRJ_G0027027 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_BALBcJ_G0027070 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C3HHeJ_G0026811 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGI_C57BL6J_2153839 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_C57BL6NJ_G0027515 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CASTEiJ_G0026266 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_CBAJ_G0026789 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_DBA2J_G0026923 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_FVBNJ_G0026891 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_LPJ_G0027035 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NODShiLtJ_G0026912 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_NZOHlLtJ_G0027575 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PWKPhJ_G0025999 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_WSBEiJ_G0026339 | -
Type: protein_coding_gene
Organism: mouse, laboratory
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Protein Coding Gene
MGP_PahariEiJ_G0026322 | -
Type: protein_coding_gene
Organism: Mus pahari
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Protein Coding Gene
MGP_SPRETEiJ_G0025808 | -
Type: protein_coding_gene
Organism: Mus spretus
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Publication
- | J:14018
 
First Author: Sweet HO
Year: 1985
Journal: Mouse News Lett
Title: Cocoa (coa)
Volume: 73
Pages: 18
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Publication
- | J:118117
     
First Author: Samples RM
Year: 2007
Journal: MGI Direct Data Submission
Title: Cocoa 7 Jackson, a new spontaneous moouse mutation in The Hsp3 gene
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Publication
- | J:137495
     
First Author: Siggs OM
Year: 2008
Journal: MGI Direct Data Submission
Title: Record for "pam gray", updated 23rd of July, 2008
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Publication
- | J:201725
     
First Author: Purrington T
Year: 2013
Journal: MGI Direct Data Submission
Title: Direct data submission for blue
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Publication
- | J:201727
     
First Author: Purrington T
Year: 2013
Journal: MGI Direct Data Submission
Title: Direct data submission for gandalf
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Publication
25189619 | J:236210
First Author: Li K
Year: 2014
Journal: J Cell Sci
Title: HPS6 interacts with dynactin p150Glued to mediate retrograde trafficking and maturation of lysosomes.
Volume: 127
Issue: Pt 21
Pages: 4574-88
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Publication
3408670 | J:9300
First Author: Novak EK
Year: 1988
Journal: Br J Haematol
Title: Cocoa: a new mouse model for platelet storage pool deficiency.
Volume: 69
Issue: 3
Pages: 371-8
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Publication
1686722 | J:804
 
First Author: Cornwell MM
Year: 1991
Journal: Cancer Treat Res
Title: Molecular biology of P-glycoprotein.
Volume: 57
Pages: 37-56
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Publication
- | J:63693
     
First Author: Gagnon L
Year: 2000
Journal: MGI Direct Data Submission
Title: The Jackson Laboratory Mouse Mutant Resource 2000 Mutation Reports
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Publication
11707070 | J:72606
First Author: Suzuki T
Year: 2001
Journal: Genomics
Title: The gene mutated in cocoa mice, carrying a defect of organelle biogenesis, is a homologue of the human Hermansky-Pudlak syndrome-3 gene.
Volume: 78
Issue: 1-2
Pages: 30-7
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Publication
23043085 | J:240992
First Author: Young LR
Year: 2012
Journal: Am J Respir Crit Care Med
Title: The alveolar epithelium determines susceptibility to lung fibrosis in Hermansky-Pudlak syndrome.
Volume: 186
Issue: 10
Pages: 1014-24
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Publication
21392365 | J:317907
First Author: Hoyle DJ
Year: 2011
Journal: Pigment Cell Melanoma Res
Title: Functional interactions between OCA2 and the protein complexes BLOC-1, BLOC-2, and AP-3 inferred from epistatic analyses of mouse coat pigmentation.
Volume: 24
Issue: 2
Pages: 275-81
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Publication
29190429 | J:274815
First Author: Kook S
Year: 2018
Journal: Am J Respir Cell Mol Biol
Title: Gene-edited MLE-15 Cells as a Model for the Hermansky-Pudlak Syndromes.
Volume: 58
Issue: 5
Pages: 566-574
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Publication
16249233 | J:103783
First Author: Falcón-Pérez JM
Year: 2005
Journal: J Cell Sci
Title: Distribution and dynamics of Lamp1-containing endocytic organelles in fibroblasts deficient in BLOC-3.
Volume: 118
Issue: Pt 22
Pages: 5243-55
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Publication
22984402 | J:191882
First Author: Rachel RA
Year: 2012
Journal: PLoS One
Title: Melanoregulin, product of the dsu locus, links the BLOC-pathway and OA1 in organelle biogenesis.
Volume: 7
Issue: 9
Pages: e42446
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Publication
18629000 | J:139279
First Author: Chan WT
Year: 2008
Journal: PLoS One
Title: Murine leukemia virus spreading in mice impaired in the biogenesis of secretory lysosomes and Ca2+-regulated exocytosis.
Volume: 3
Issue: 7
Pages: e2713
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Publication
- | J:30547
First Author: Cook S
Year: 1995
Journal: Mouse Genome
Title: Remutation coa5J
Volume: 93
Issue: 4
Pages: 1030
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Publication
16760431 | J:114481
First Author: Salazar G
Year: 2006
Journal: Mol Biol Cell
Title: BLOC-1 complex deficiency alters the targeting of adaptor protein complex-3 cargoes.
Volume: 17
Issue: 9
Pages: 4014-26
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Publication
19010779 | J:145883
First Author: Salazar G
Year: 2009
Journal: J Biol Chem
Title: Hermansky-Pudlak syndrome protein complexes associate with phosphatidylinositol 4-kinase type II alpha in neuronal and non-neuronal cells.
Volume: 284
Issue: 3
Pages: 1790-802
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Publication
10193444 | J:53228
First Author: McGarry MP
Year: 1999
Journal: Proc Soc Exp Biol Med
Title: Survival and lung pathology of mouse models of Hermansky-Pudlak syndrome and Chediak-Higashi syndrome.
Volume: 220
Issue: 3
Pages: 162-8
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Publication
12445206 | J:80751
First Author: Nguyen T
Year: 2002
Journal: J Invest Dermatol
Title: Melanosome morphologies in murine models of hermansky-pudlak syndrome reflect blocks in organelle development.
Volume: 119
Issue: 5
Pages: 1156-64
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Publication
27777976 | J:291717
First Author: Young LR
Year: 2016
Journal: JCI Insight
Title: Epithelial-macrophage interactions determine pulmonary fibrosis susceptibility in Hermansky-Pudlak syndrome.
Volume: 1
Issue: 17
Pages: e88947
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Publication
18715234 | J:141035
First Author: Anderson MG
Year: 2008
Journal: Pigment Cell Melanoma Res
Title: Iris phenotypes and pigment dispersion caused by genes influencing pigmentation.
Volume: 21
Issue: 5
Pages: 565-78
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Publication
- | J:16313
First Author: Sweet HO
Year: 1993
Journal: Mouse Genome
Title: Remutations at The Jackson Laboratory
Volume: 91
Issue: 4
Pages: 862-65
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Publication
23247405 | J:320067
First Author: Bultema JJ
Year: 2013
Journal: Small GTPases
Title: Cell type-specific Rab32 and Rab38 cooperate with the ubiquitous lysosome biogenesis machinery to synthesize specialized lysosome-related organelles.
Volume: 4
Issue: 1
Pages: 16-21
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Publication
2379821 | J:29467
First Author: Moore KJ
Year: 1990
Journal: Genetics
Title: Interaction of the murine dilute suppressor gene (dsu) with fourteen coat color mutations.
Volume: 125
Issue: 2
Pages: 421-30
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Publication
29768498 | J:267654
First Author: Saul MC
Year: 2018
Journal: PLoS One
Title: Genomic variants in an inbred mouse model predict mania-like behaviors.
Volume: 13
Issue: 5
Pages: e0197624
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Publication
9714600 | J:48443
First Author: Odorizzi G
Year: 1998
Journal: Trends Cell Biol
Title: The AP-3 complex: a coat of many colours.
Volume: 8
Issue: 7
Pages: 282-8
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Publication
- | J:30778
First Author: Sweet HO
Year: 1995
Journal: Mouse Genome
Title: Remutations at The Jackson Laboratory (Update to Mouse Genome 1993; 91:862-5 - J16313)
Volume: 93
Issue: 4
Pages: 1030-4
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Publication
19000842 | J:142800
First Author: Brunskill EW
Year: 2008
Journal: Dev Cell
Title: Atlas of gene expression in the developing kidney at microanatomic resolution.
Volume: 15
Issue: 5
Pages: 781-91
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Publication
15306695 | J:91835
First Author: Kaput J
Year: 2004
Journal: Physiol Genomics
Title: Identification of genes contributing to the obese yellow Avy phenotype: caloric restriction, genotype, diet x genotype interactions.
Volume: 18
Issue: 3
Pages: 316-24
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Publication
- | J:342607
       
First Author: Birgit Meldal and Sandra Orchard (1). (1) European Bioinformatics Institute (EBI), Hinxton, Cambridgeshire, United Kingdom
Year: 2023
Title: Manual transfer of experimentally-verified manual GO annotation data to homologous complexes by curator judgment of sequence, composition and function similarity
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Publication
- | J:57656
     
First Author: Lennon G
Year: 1999
Journal: Database Download
Title: WashU-HHMI Mouse EST Project
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Publication
- | J:204812
     
First Author: International Mouse Strain Resource
Year: 2014
Journal: Database Download
Title: MGI download of germline transmission data for alleles from IMSR strain data
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Publication
- | J:148605
     
First Author: Wellcome Trust Sanger Institute
Year: 2009
Journal: MGI Direct Data Submission
Title: Alleles produced for the KOMP project by the Wellcome Trust Sanger Institute
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Publication
- | J:342604
       
First Author: UniProt-GOA
Year: 2012
Title: Gene Ontology annotation based on UniProtKB/Swiss-Prot Subcellular Location vocabulary mapping, accompanied by conservative changes to GO terms applied by UniProt
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Publication
16141072 | J:99680
First Author: Carninci P
Year: 2005
Journal: Science
Title: The transcriptional landscape of the mammalian genome.
Volume: 309
Issue: 5740
Pages: 1559-63
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Publication
- | J:23000
       
First Author: MGD Nomenclature Committee
Year: 1995
Title: Nomenclature Committee Use
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Publication
21677750 | J:173534
First Author: Skarnes WC
Year: 2011
Journal: Nature
Title: A conditional knockout resource for the genome-wide study of mouse gene function.
Volume: 474
Issue: 7351
Pages: 337-42
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Publication
- | J:141210
     
First Author: Mouse Genome Informatics (MGI) and National Center for Biotechnology Information (NCBI)
Year: 2008
Journal: Database Download
Title: Mouse Gene Trap Data Load from dbGSS
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Publication
12466851 | J:80000
First Author: Okazaki Y
Year: 2002
Journal: Nature
Title: Analysis of the mouse transcriptome based on functional annotation of 60,770 full-length cDNAs.
Volume: 420
Issue: 6915
Pages: 563-73
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Publication
- | J:164563
       
First Author: The Gene Ontology Consortium
Year: 2010
Title: Automated transfer of experimentally-verified manual GO annotation data to mouse-human orthologs
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Publication
- | J:75000
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2002
Title: Mouse Genome Informatics Computational Sequence to Gene Associations
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Publication
- | J:157972
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2010
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome U74 Array Platform (A, B, C v2).
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Publication
- | J:57747
     
First Author: MGI Genome Annotation Group and UniGene Staff
Year: 2015
Journal: Database Download
Title: MGI-UniGene Interconnection Effort
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Publication
- | J:161428
       
First Author: Marc Feuermann, Huaiyu Mi, Pascale Gaudet, Dustin Ebert, Anushya Muruganujan, Paul Thomas
Year: 2010
Title: Annotation inferences using phylogenetic trees
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Publication
- | J:63103
     
First Author: Mouse Genome Database and National Center for Biotechnology Information
Year: 2000
Journal: Database Release
Title: Entrez Gene Load
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Publication
- | J:262123
     
First Author: Allen Institute for Brain Science
Year: 2004
Journal: Allen Institute
Title: Allen Brain Atlas: mouse riboprobes
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Publication
- | J:144086
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Gene 1.0 ST Array Platform
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Publication
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First Author: Mouse Genome Informatics (MGI) and The National Center for Biotechnology Information (NCBI)
Year: 2010
Journal: Database Download
Title: Consensus CDS project
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Publication
- | J:85324
     
First Author: Mouse Genome Informatics Group
Year: 2003
Journal: Database Procedure
Title: Automatic Encodes (AutoE) Reference
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Publication
- | J:53168
     
First Author: Bairoch A
Year: 1999
Journal: Database Release
Title: SWISS-PROT Annotated protein sequence database
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Publication
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First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations
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Publication
- | J:155221
     
First Author: Mouse Genome Informatics
Year: 2010
Journal: Database Release
Title: Protein Ontology Association Load.
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Publication
- | J:90438
       
First Author: Mouse Genome Informatics Scientific Curators
Year: 2005
Title: Obtaining and loading genome assembly coordinates from NCBI annotations
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Publication
- | J:144087
     
First Author: Mouse Genome Informatics Scientific Curators
Year: 2009
Journal: Database Download
Title: Mouse Microarray Data Integration in Mouse Genome Informatics, the Affymetrix GeneChip Mouse Genome 430 2.0 Array Platform
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Allele
Hps3<coa> | MGI:1856707
 
Name: HPS3, biogenesis of lysosomal organelles complex 2 subunit 1; cocoa
Allele Type: Spontaneous
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MouseMine is a collaboration between MGI at The Jackson Laboratory and the InterMine project at the Cambridge Systems Biology Centre. MouseMine is funded through a grant from the NIH/NHGRI.The Jackson Laboratory makes no representation about the suitability or accuracy of this software or data for any purpose, and makes no warranties, either express or implied, including merchantability and fitness for a particular purpose or that the use of this software or data will not infringe any third party patents, copyrights, trademarks, or other rights. the software and data are provided "as is". This software and data are provided to enhance knowledge and encourage progress in the scientific community and are to be used only for research and educational purposes. Any reproduction or use for commercial purpose is prohibited without the prior express written permission of the Jackson Laboratory.

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