Varaico: Literature-Extracted Genetic Variants

Gene:GNE
Variant:p.V138_S139insFs
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GNE

NM_005476.7:p.V138_S139insFs

Associated Papers

Long-term evaluation parameters in GNE myopathy: a 5-year observational follow-up natural history study.

Mori-Yoshimura M et al.

Bmj Neurology Open, 2022

36483092 (PubMed )
Supplement: bmjno-2022-000362supp001.pdf
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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."