A recurrent de novo heterozygous COG4 substitution leads to Saul-Wilson syndrome, disrupted vesicular trafficking, and altered proteoglycan glycosylation CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ... The American Journal of Human Genetics 103 (4), 553-567, 2018 | 61 | 2018 |
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ARTICLE A Recurrent De Novo Heterozygous COG4 Substitution Leads to Saul-Wilson Syndrome, Disrupted Vesicular Trafficking, and Altered Proteoglycan Glycosylation CR Ferreira, ZJ Xia, A Clément, DA Parry, M Davids, F Taylan, P Sharma, ... | | |