Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.L179L
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GNE

NM_005476.7:p.L179L

Associated Papers

Novel missense variants associated with GNE myopathy.

Ranta-Aho J et al.

Neuromuscular Disorders : Nmd, 2025

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

Cerino M et al.

Journal of Neuromuscular Diseases, 2015

27858732 (PubMed )
Supplement: jnd-2-2-jnd150074-s001.pdf
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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."