Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.H705R
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GNE

NM_001128227.3:p.H705R

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

Motor axonal neuropathy associated with GNE mutations.

Grecu N et al.

Muscle & Nerve, 2021

GNE missense mutation in recessive familial amyotrophic lateral sclerosis.

Köroğlu Ç et al.

Neurogenetics, 2017

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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."