Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.Y84*
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PYGM

NM_005609.4:p.Y84*

Associated Papers

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

Martín MA et al.

Annals of Human Genetics, 2004

Two novel mutations in the myophosphorylase gene in a patient with McArdle disease.

Deschauer M et al.

Muscle & Nerve, 2003

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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."