Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.D815A
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PYGM

NM_005609.4:p.D815A

Associated Papers

McArdle disease: molecular genetic update.

Andreu AL et al.

Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2007

A proposed molecular diagnostic flowchart for myophosphorylase deficiency (McArdle disease) in blood samples from Spanish patients.

Rubio JC et al.

Human Mutation, 2007

Molecular genetics of McArdle's disease.

Nogales-Gadea G et al.

Current Neurology and Neuroscience Reports, 2007

McArdle disease: the mutation spectrum of PYGM in a large Italian cohort.

Bruno C et al.

Human Mutation, 2006

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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."