PhenomeGene — Human Disease Gene Website SeriesCOG4

Publications

Ferreira et al.A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. Am J Hum Genet. 2018;103(4):553-567.  PMID: 30290151.