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Characterization of a missense variant in COG5 in a Tunisian patient with COG5-CDG syndrome and insights into the effect of non-synonymous variants on COG5 protein.
Novel mutation of COG5 in a Taiwanese girl with congenital disorders of glycosylation manifesting as developmental delay.
The First Congenital Disorders of Glycosylation Patient (Fetus) with Homozygous COG5 c.95T>G Variant.
Dissecting Total Plasma and Protein-Specific Glycosylation Profiles in Congenital Disorders of Glycosylation.
A new strategy implementing mass spectrometry in the diagnosis of congenital disorders of N-glycosylation (CDG).