Varaico: Literature-Extracted Genetic Variants

Gene:GALNT2
Variant:p.Y99insFs
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GALNT2

NM_004481.5:p.Y99insFs

Associated Papers

Polypeptide N-acetylgalactosaminyltransferase-Associated Phenotypes in Mammals.

Kato K et al.

Molecules (basel, Switzerland), 2021

Novel congenital disorder of O-linked glycosylation caused by GALNT2 loss of function.

Zilmer M et al.

Brain : a Journal of Neurology, 2020

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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."