Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.V744I
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GNE

NM_001128227.3:p.V744I

Associated Papers

Novel missense variants associated with GNE myopathy.

Ranta-Aho J et al.

Neuromuscular Disorders : Nmd, 2025

The UDP-N-acetylglucosamine 2-epimerase/N-acetylmannosamine kinase gene is mutated in recessive hereditary inclusion body myopathy.

Eisenberg I et al.

Nature Genetics, 2001

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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."