Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.T71_Q73insFs
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PYGM

NM_005609.4:p.T71_Q73insFs

Associated Papers

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

Santalla A et al.

Bmc Genomics, 2017

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

Nogales-Gadea G et al.

Human Mutation, 2015

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

Rubio JC et al.

Human Mutation, 2007

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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."