Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.R570Q
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PYGM

NM_005609.4:p.R570Q

Associated Papers

A novel compound heterozygous mutation in PYGM gene associated with McArdle's disease.

Iacono S et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2022

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

Aquaron R et al.

Neuromuscular Disorders : Nmd, 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."