Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.V16Fs
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PYGM

NM_005609.4:p.V16Fs

Associated Papers

McArdle Disease: Update of Reported Mutations and Polymorphisms in the PYGM Gene.

Nogales-Gadea G et al.

Human Mutation, 2015

McArdle disease: molecular genetic update.

Andreu AL et al.

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

Molecular genetics of McArdle's disease.

Nogales-Gadea G et al.

Current Neurology and Neuroscience Reports, 2007

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA et al.

Annals of Human Genetics, 2004

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