Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.M60T
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GNE

NM_005476.7:p.M60T

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

Understanding pathophysiology of GNE myopathy and current progress towards drug development.

Mashangva F et al.

Journal of Biosciences, 2024

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

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

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Mori-Yoshimura M et al.

Bmj Neurology Open, 2022

36483092 (PubMed )
Supplement: bmjno-2022-000362supp001.pdf

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."