Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.Q13_I14del2
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PYGM

NM_005609.4:p.Q13_I14del2

Associated Papers

Pearls & Oy-sters: Hickam's Dictum in Genetic Myopathies: When a Proven Pathogenic Mutation Does Not Explain the Phenotype.

Sánchez-Tejerina D et al.

Neurology, 2021

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."