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 | Fish | Environment | Evidence Code |
---|---|---|---|
Saul-Wilson syndrome |
cog4b1311/b1311 cog4b1312/b1312 |
standard conditions standard conditions |
|