Ferreira et al., 2018 - A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation. American journal of human genetics   103:553-567 Full text @ Am. J. Hum. Genet.
2 Genes / Markers
Marker Type Symbol Name
Gene cog4 component of oligomeric golgi complex 4
Gene col1a2 collagen, type I, alpha 2
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