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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XPNPEP3

Variant:p.Y385insFs

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XPNPEP3

NM_022098.4:p.Y385insFs

hg38:chr22:40922429 C>CT

Associated Papers

A novel XPNPEP3 gene variant manifesting as rhabdomyolysis and exercise intolerance.

Staedler K et al.

Journal of Neuromuscular Diseases, 2025

40953058 (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."