Title : COG1-congenital disorders of glycosylation: Milder presentation and review.

Pub. Date : 2021 Sep

PMID : 33960418






1 Functional Relationships(s)
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Compound Name
Protein Name
Organism
1 Exome sequencing identified a homozygous COG1 variant (NM_018714.3: c.2665dup: p.(Arg889Profs*12)), which has been reported previously in one patient. arg889profs component of oligomeric golgi complex 1 Homo sapiens