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.
Human Disease / Model Data (1 Record)
Human Disease Fish Environment Evidence Code
Saul-Wilson syndrome cog4b1311/b1311
cog4b1312/b1312
standard conditions
standard conditions
TAS
TAS