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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.N708I

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PYGM

NM_005609.4:p.N708I

hg38:chr11:64750430 T>A

Associated Papers

PYGM mRNA expression in McArdle disease: Demographic, clinical, morphological and genetic features.

Carvalho AAS et al.

Plos One, 2020

32735634 (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."