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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:GNE

Variant:p.I146V

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GNE

NM_005476.7:p.I146V

hg38:chr9:36246211 T>C

Associated Papers

Nationwide patient registry for GNE myopathy in Japan.

Mori-Yoshimura M et al.

Orphanet Journal of Rare Diseases, 2014

25303967 (PubMed )

Supplement: 13023_2014_150_MOESM1_ESM.xlsx › Sheet1

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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."