Varaico: Literature-Extracted Genetic Variants

Gene:ALG6
Variant:p.S308R
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ALG6

NM_013339.4:p.S308R

Associated Papers

Reduced expression of the oligosaccharyltransferase exacerbates protein hypoglycosylation in cells lacking the fully assembled oligosaccharide donor.

Shrimal S et al.

Glycobiology, 2015

Identification of a frequent variant in ALG6, the cause of Congenital Disorder of Glycosylation-Ic.

Westphal V et al.

Human Mutation, 2003

Reduced heparan sulfate accumulation in enterocytes contributes to protein-losing enteropathy in a congenital disorder of glycosylation.

Westphal V et al.

The American Journal of Pathology, 2000

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."