Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.W183*
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PYGM

NM_005609.4:p.W183*

Associated Papers

Phenotype and genotype of 197 British patients with McArdle disease: An observational single-centre study.

Pizzamiglio C et al.

Journal of Inherited Metabolic Disease, 2021

Characterization of mutations in patients with multiple endocrine neoplasia type 1.

Bassett JH et al.

American Journal of Human Genetics, 1998

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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."