Title : Disorder of sex development associated with a novel homozygous nonsense mutation in COG6 expands the phenotypic spectrum of COG6-CDG.

Pub. Date : 2021 Apr

PMID : 33394555






2 Functional Relationships(s)
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1 In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of COG6 gene found in homozygosity in a Moroccan patient with severe presentation of COG6-CDG (OMIM #614576). 2,4-Diamino-6-[N-(2',5'-dimethoxybenzyl)-N-methylamino]quinazoline component of oligomeric golgi complex 6 Homo sapiens
2 In order to further delineate the genotypic and phenotypic spectrum of COG complex defect, we describe a novel variant of COG6 gene found in homozygosity in a Moroccan patient with severe presentation of COG6-CDG (OMIM #614576). 2,4-Diamino-6-[N-(2',5'-dimethoxybenzyl)-N-methylamino]quinazoline component of oligomeric golgi complex 6 Homo sapiens