Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.S450L
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PYGM

NM_005609.4:p.S450L

Associated Papers

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.

Joshi PR et al.

Biomedicines, 2020

Analysis of spectrum and frequencies of mutations in McArdle disease. Identification of 13 novel mutations.

Deschauer M et al.

Journal of Neurology, 2007

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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."