Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.F97V
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GNE

NM_001128227.3:p.F97V

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

Novel variants and genotype-phenotype correlation in a multicentre cohort of GNE myopathy in China.

Jiao K et al.

Journal of Medical Genetics, 2024

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y et al.

Journal of Human Genetics, 2019

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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."