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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNE

Variant:p.V685A

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GNE

NM_001128227.3:p.V685A

hg38:chr9:36217573 A>G

Associated Papers

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

Mashangva F et al.

Journal of Biosciences, 2024

38383974 (PubMed )

Different electrophysiology patterns in GNE myopathy.

Liu X et al.

Orphanet Journal of Rare Diseases, 2022

35590323 (PubMed )

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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."