Type |
Details |
Score |
Gene |
Type: |
gene |
Organism: |
human |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
frog, western clawed |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chimpanzee |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
chicken |
|
•
•
•
•
•
|
Gene |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
dog, domestic |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
cattle |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
zebrafish |
|
•
•
•
•
•
|
Gene |
Type: |
gene |
Organism: |
macaque, rhesus |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Domain |
Type: |
Family |
Description: |
AT-hook DNA-binding motif-containing protein 1 (AHDC1) is uncharacterized, but truncating mutations in the gene lead to mental retardation, autosomal dominant 25 (MRD25). Patients suffered hypotonia, intellectual disability, global developmental delay, mildly dysmorphic facial features and in some cases sleep apnea []. |
|
•
•
•
•
•
|
Publication |
First Author: |
Xia F |
Year: |
2014 |
Journal: |
Am J Hum Genet |
Title: |
De novo truncating mutations in AHDC1 in individuals with syndromic expressive language delay, hypotonia, and sleep apnea. |
Volume: |
94 |
Issue: |
5 |
Pages: |
784-9 |
|
•
•
•
•
•
|
Protein |
Organism: |
Mus musculus/domesticus |
Length: |
1594
 |
Fragment?: |
false |
|
•
•
•
•
•
|
Publication |
First Author: |
Quintero-Rivera F |
Year: |
2015 |
Journal: |
Hum Mol Genet |
Title: |
MATR3 disruption in human and mouse associated with bicuspid aortic valve, aortic coarctation and patent ductus arteriosus. |
Volume: |
24 |
Issue: |
8 |
Pages: |
2375-89 |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus caroli |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
mouse, laboratory |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus pahari |
|
•
•
•
•
•
|
Protein Coding Gene |
Type: |
protein_coding_gene |
Organism: |
Mus spretus |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610519 |
|
Stage: |
TS19 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 11.5 |
Image: |
3 |
|
Specimen Label: |
Heart |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1640519 |
|
Stage: |
TS19 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 11.5 |
Image: |
3 |
|
Specimen Label: |
Limb |
Detected: |
true |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689419 |
|
Stage: |
TS19 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 11.5 |
Image: |
3 |
|
Specimen Label: |
Brain |
Detected: |
true |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610524 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 16.5 |
Image: |
3 |
|
Specimen Label: |
Heart |
Detected: |
false |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1640524 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 16.5 |
Image: |
3 |
|
Specimen Label: |
Limb |
Detected: |
true |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Present |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689424 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5696265 |
Age: |
embryonic day 16.5 |
Image: |
3 |
|
Specimen Label: |
Brain |
Detected: |
true |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610527 |
|
Stage: |
TS27 |
Assay Id: |
MGI:5696265 |
Age: |
postnatal newborn |
Image: |
3 |
|
Specimen Label: |
Heart |
Detected: |
false |
Specimen Num: |
8 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1640527 |
|
Stage: |
TS27 |
Assay Id: |
MGI:5696265 |
Age: |
postnatal newborn |
Image: |
3 |
|
Specimen Label: |
Limb |
Detected: |
false |
Specimen Num: |
9 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1689427 |
|
Stage: |
TS27 |
Assay Id: |
MGI:5696265 |
Age: |
postnatal newborn |
Image: |
3 |
|
Specimen Label: |
Brain |
Detected: |
false |
Specimen Num: |
10 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610519 |
|
Stage: |
TS19 |
Assay Id: |
MGI:5696266 |
Age: |
embryonic day 11.5 |
Image: |
3 |
|
Specimen Label: |
E11.5 |
Detected: |
false |
Specimen Num: |
2 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610521 |
|
Stage: |
TS21 |
Assay Id: |
MGI:5696266 |
Age: |
embryonic day 13.5 |
Image: |
3 |
|
Specimen Label: |
E13.5 |
Detected: |
false |
Specimen Num: |
3 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610522 |
|
Stage: |
TS22 |
Assay Id: |
MGI:5696266 |
Age: |
embryonic day 14.5 |
Image: |
3 |
|
Specimen Label: |
E14.5 |
Detected: |
false |
Specimen Num: |
4 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610524 |
|
Stage: |
TS24 |
Assay Id: |
MGI:5696266 |
Age: |
embryonic day 16.5 |
Image: |
3 |
|
Specimen Label: |
E16.5 |
Detected: |
false |
Specimen Num: |
5 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610527 |
|
Stage: |
TS27 |
Assay Id: |
MGI:5696266 |
Age: |
postnatal newborn |
Image: |
3 |
|
Specimen Label: |
NB |
Detected: |
false |
Specimen Num: |
6 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696264 |
Assay Type: |
RT-PCR |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610528 |
|
Stage: |
TS28 |
Assay Id: |
MGI:5696266 |
Age: |
postnatal adult |
Image: |
3 |
|
Specimen Label: |
Adult |
Detected: |
false |
Specimen Num: |
7 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696267 |
Assay Type: |
RNA in situ |
Annotation Date: |
2015-11-17 |
Strength: |
Absent |
Sex: |
Not Specified |
Emaps: |
EMAPS:1610519 |
|
Stage: |
TS19 |
Assay Id: |
MGI:5696270 |
Age: |
embryonic day 11.5 |
Image: |
3B |
|
Specimen Label: |
3B |
Detected: |
false |
Specimen Num: |
1 |
|
•
•
•
•
•
|
GXD Expression |
Probe: |
MGI:5696267 |
Assay Type: |
RNA in situ |
Annotation Date: |
2015-11-17 |
Strength: |
Weak |
Sex: |
Not Specified |
Emaps: |
EMAPS:1603919 |
Pattern: |
Regionally restricted |
Stage: |
TS19 |
Assay Id: |
MGI:5696270 |
Age: |
embryonic day 11.5 |
Image: |
3B |
|
Specimen Label: |
3B |
Detected: |
true |
Specimen Num: |
1 |
|
•
•
•
•
•
|
Publication |
First Author: |
Collier A |
Year: |
2022 |
Journal: |
Nature |
Title: |
Gibbin mesodermal regulation patterns epithelial development. |
Volume: |
606 |
Issue: |
7912 |
Pages: |
188-196 |
|
•
•
•
•
•
|
Publication |
First Author: |
Schebelle L |
Year: |
2010 |
Journal: |
Nucleic Acids Res |
Title: |
Efficient conditional and promoter-specific in vivo expression of cDNAs of choice by taking advantage of recombinase-mediated cassette exchange using FlEx gene traps. |
Volume: |
38 |
Issue: |
9 |
Pages: |
e106 |
|
•
•
•
•
•
|
Publication |
First Author: |
Osipovich AB |
Year: |
2005 |
Journal: |
Genome Res |
Title: |
Post-entrapment genome engineering: first exon size does not affect the expression of fusion transcripts generated by gene entrapment. |
Volume: |
15 |
Issue: |
3 |
Pages: |
428-35 |
|
•
•
•
•
•
|
Publication |
First Author: |
Araki K |
Year: |
1999 |
Journal: |
Cell Mol Biol (Noisy-le-grand) |
Title: |
Exchangeable gene trap using the Cre/mutated lox system. |
Volume: |
45 |
Issue: |
5 |
Pages: |
737-50 |
|
•
•
•
•
•
|
Publication |
First Author: |
Taniwaki T |
Year: |
2005 |
Journal: |
Dev Growth Differ |
Title: |
Characterization of an exchangeable gene trap using pU-17 carrying a stop codon-beta geo cassette. |
Volume: |
47 |
Issue: |
3 |
Pages: |
163-72 |
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen J |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
A large-scale, gene-driven mutagenesis approach for the functional analysis of the mouse genome. |
Volume: |
100 |
Issue: |
17 |
Pages: |
9918-22 |
|
•
•
•
•
•
|
Publication |
First Author: |
Friedel RH |
Year: |
2007 |
Journal: |
Brief Funct Genomic Proteomic |
Title: |
EUCOMM--the European conditional mouse mutagenesis program. |
Volume: |
6 |
Issue: |
3 |
Pages: |
180-5 |
|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Function or Process or Component Unknown following Literature Review |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
The Gene Ontology Consortium |
Year: |
2016 |
|
Title: |
Automatic assignment of GO terms using logical inference, based on on inter-ontology links |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Stryke D |
Year: |
2003 |
Journal: |
Nucleic Acids Res |
Title: |
BayGenomics: a resource of insertional mutations in mouse embryonic stem cells. |
Volume: |
31 |
Issue: |
1 |
Pages: |
278-81 |
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Hansen GM |
Year: |
2008 |
Journal: |
Genome Res |
Title: |
Large-scale gene trapping in C57BL/6N mouse embryonic stem cells. |
Volume: |
18 |
Issue: |
10 |
Pages: |
1670-9 |
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Carninci P |
Year: |
2005 |
Journal: |
Science |
Title: |
The transcriptional landscape of the mammalian genome. |
Volume: |
309 |
Issue: |
5740 |
Pages: |
1559-63 |
|
•
•
•
•
•
|
Publication |
First Author: |
MGD Nomenclature Committee |
Year: |
1995 |
|
Title: |
Nomenclature Committee Use |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Zambrowicz BP |
Year: |
2003 |
Journal: |
Proc Natl Acad Sci U S A |
Title: |
Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. |
Volume: |
100 |
Issue: |
24 |
Pages: |
14109-14 |
|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
First Author: |
Cyagen Biosciences Inc. |
Year: |
2022 |
|
Title: |
Cyagen Biosciences Website. |
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|
•
•
•
•
•
|
Publication |
First Author: |
AgBase, BHF-UCL, Parkinson's UK-UCL, dictyBase, HGNC, Roslin Institute, FlyBase and UniProtKB curators |
Year: |
2011 |
|
Title: |
Manual transfer of experimentally-verified manual GO annotation data to orthologs by curator judgment of sequence similarity |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
UniProt-GOA |
Year: |
2012 |
|
Title: |
Gene Ontology annotation based on UniProtKB/Swiss-Prot keyword mapping |
|
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|
•
•
•
•
•
|
Publication |
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 |
|
•
•
•
•
•
|
Publication |
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 |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2002 |
|
Title: |
Mouse Genome Informatics Computational Sequence to Gene Associations |
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|
|
|
•
•
•
•
•
|
Publication |
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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|
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|
•
•
•
•
•
|
Publication |
First Author: |
Mouse Genome Database and National Center for Biotechnology Information |
Year: |
2000 |
Journal: |
Database Release |
Title: |
Entrez Gene Load |
|
|
|
|
•
•
•
•
•
|
Publication |
First Author: |
Allen Institute for Brain Science |
Year: |
2004 |
Journal: |
Allen Institute |
Title: |
Allen Brain Atlas: mouse riboprobes |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
|
|
|
|
•
•
•
•
•
|
Publication |
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 |
First Author: |
Mouse Genome Informatics Group |
Year: |
2003 |
Journal: |
Database Procedure |
Title: |
Automatic Encodes (AutoE) Reference |
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Publication |
First Author: |
Bairoch A |
Year: |
1999 |
Journal: |
Database Release |
Title: |
SWISS-PROT Annotated protein sequence database |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and Loading Genome Assembly Coordinates from Ensembl Annotations |
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Publication |
First Author: |
Mouse Genome Informatics |
Year: |
2010 |
Journal: |
Database Release |
Title: |
Protein Ontology Association Load. |
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Publication |
First Author: |
Mouse Genome Informatics Scientific Curators |
Year: |
2005 |
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Title: |
Obtaining and loading genome assembly coordinates from NCBI annotations |
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Publication |
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 |
Name: |
AT hook, DNA binding motif, containing 1; endonuclease-mediated mutation 1, Anthony E Oro |
Allele Type: |
Endonuclease-mediated |
Attribute String: |
Null/knockout |
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Genotype |
Symbol: |
Ahdc1/? |
Background: |
mosaic involves: C57BL/6 * CD-1 |
Zygosity: |
ot |
Has Mutant Allele: |
true |
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DO Term |
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