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Publication : A novel phenotype in N-glycosylation disorders: Gillessen-Kaesbach-Nishimura skeletal dysplasia due to pathogenic variants in ALG9.

First Author  Tham E Year  2016
Journal  Eur J Hum Genet Volume  24
Issue  2 Pages  198-207
PubMed ID  25966638 Mgi Id 
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