Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H251P
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GNE

NM_001128227.3:p.H251P

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

Novel Pathogenic Variants in a French Cohort Widen the Mutational Spectrum of GNE Myopathy.

Cerino M et al.

Journal of Neuromuscular Diseases, 2015

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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."