Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A631delFs
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GNE

NM_001128227.3:p.A631delFs

Associated Papers

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

40225917 (PubMed )
Supplement: 7377504.f4.xlsx › Sheet1

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y et al.

Journal of Human Genetics, 2019

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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."