Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.Q176_M177Splc
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PYGM

NM_005609.4:p.Q176_M177Splc

Associated Papers

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

Santalla A et al.

Bmc Genomics, 2017

Genotypic and phenotypic features of McArdle disease: insights from the Spanish national registry.

Lucia A et al.

Journal of Neurology, Neurosurgery, and Psychiatry, 2012

Novel mutations in patients with McArdle disease by analysis of skeletal muscle mRNA.

García-Consuegra I et al.

Journal of Medical Genetics, 2009

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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."