Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.K754fs
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PYGM

NM_005609.4:p.K754fs

Associated Papers

A disease that is difficult to predict: regional distribution and phenotypic, histopathological and genetic findings in McArdle disease.

Erdoğan B et al.

Journal of Pediatric Endocrinology & Metabolism : Jpem, 2025

Molecular characterization of myophosphorylase deficiency (McArdle disease) in 34 patients from Southern France: identification of 10 new mutations. Absence of genotype-phenotype correlation.

Aquaron R et al.

Neuromuscular Disorders : Nmd, 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."