Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.D52G
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GNE

NM_005476.7:p.D52G

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

Estimating the Prevalence of GNE Myopathy Using Population Genetic Databases.

Derksen A et al.

Human Mutation, 2024

40225917 (PubMed )
Supplement: 7377504.f2.xlsx › Sheet1

Gene analysis and clinical features of 22 GNE myopathy patients.

Guo X et al.

Neurological Sciences : Official Journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology, 2022

Differential diagnosis of vacuolar myopathies in the NGS era.

Mair D et al.

Brain Pathology (zurich, Switzerland), 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."