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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNE

Variant:p.A620V

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GNE

NM_001128227.3:p.A620V

hg38:chr9:36219888 G>A

Associated Papers

Molecular genetics and therapeutic development for GNE myopathy.

Yoshioka W et al.

Journal of Human Genetics, 2025

40913063 (PubMed )

GNE myopathy in Chinese population: hotspot and novel mutations.

Chen Y et al.

Journal of Human Genetics, 2019

30390020 (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."