Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A630V
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GNE

NM_005476.7:p.A630V

Associated Papers

Regulation and pathophysiological implications of UDP-GlcNAc 2-epimerase/ManNAc kinase (GNE) as the key enzyme of sialic acid biosynthesis.

Reinke SO et al.

Biological Chemistry, 2009

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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."