Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G576fs
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GNE

NM_005476.7:p.G576fs

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 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

Genetics of GNE myopathy in the non-Jewish Persian population.

Haghighi A et al.

European Journal of Human Genetics : Ejhg, 2016

Mutation update for GNE gene variants associated with GNE myopathy.

Celeste FV et al.

Human Mutation, 2014

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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."