Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.R576Q
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PYGM

NM_005609.4:p.R576Q

Associated Papers

Recurrent atraumatic compartment syndrome as a manifestation of genetic neuromuscular disease.

Famili DT et al.

Neuromuscular Disorders : Nmd, 2023

McArdle Disease: New Insights into Its Underlying Molecular Mechanisms.

Llavero F et al.

International Journal of Molecular Sciences, 2019

Genotypic and phenotypic features of all Spanish patients with McArdle disease: a 2016 update.

Santalla A et al.

Bmc Genomics, 2017

Molecular diagnosis of glycogen storage disease and disorders with overlapping clinical symptoms by massive parallel sequencing.

Vega AI et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2016

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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."