Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.M1V
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GNE

NM_005476.7:p.M1V

Associated Papers

A recurrent GNE variant causing GNE myopathy in unrelated patients from Pakistan: a case series.

Saleem S et al.

Journal of Medical Case Reports, 2025

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

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

The spectrum of hereditary neuromuscular disorders in the Pakistani population.

Akbar F et al.

American Journal of Medical Genetics. Part A, 2023

Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.

Chakravorty S et al.

Frontiers in Neurology, 2020

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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."