Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.S809insFs
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PYGM

NM_005609.4:p.S809insFs

Associated Papers

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

Vieitez I et al.

Neuromuscular Disorders : Nmd, 2011

Six novel mutations in the myophosphorylase gene in patients with McArdle disease and a family with pseudo-dominant inheritance pattern.

Wu Y et al.

Molecular Genetics and Metabolism, 2011

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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."