Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.D694D
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PYGM

NM_005609.4:p.D694D

Associated Papers

Whole-exome sequencing detects PYGM variants in two adults with McArdle disease.

Thomas-Wilson A et al.

Cold Spring Harbor Molecular Case Studies, 2022

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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."