Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H157fs
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GNE

NM_005476.7:p.H157fs

Associated Papers

Mechanism and inhibition of human UDP-GlcNAc 2-epimerase, the key enzyme in sialic acid biosynthesis.

Chen SC et al.

Scientific Reports, 2016

26980148 (PubMed )
Supplement: srep23274-s1.pdf

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 2014

Clinical characteristics and molecular genetic analysis of Korean patients with GNE myopathy.

Sim JE et al.

Yonsei Medical Journal, 2013

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