Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.G142R
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GNE

NM_001128227.3:p.G142R

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

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

Mashangva F et al.

Journal of Biosciences, 2024

The genetic and clinical spectrum in a cohort of 39 families with complex inherited peripheral neuropathies.

Wang M et al.

Journal of Neurology, 2023

Different electrophysiology patterns in GNE myopathy.

Liu X et al.

Orphanet Journal of Rare Diseases, 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."