Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.A57delins
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GNE

NM_001128227.3:p.A57delins

Associated Papers

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

Mashangva F et al.

Journal of Biosciences, 2024

The frequent variant A57F in the GNE gene in patients from Russia has Finno-Ugric Mari origin.

Subbotin D et al.

Frontiers in Genetics, 2024

Genetic and Clinical Spectrum of GNE Myopathy in Russia.

Murtazina A et al.

Genes, 2022

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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."