Varaico: Literature-Extracted Genetic Variants

Gene:PYGM
Variant:p.L36R
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PYGM

NM_005609.4:p.L36R

Associated Papers

Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.

Töpf A et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32528171 (PubMed )
Supplement: 41436_2020_840_MOESM10_ESM.xlsx › .

Molecular and clinical study of McArdle's disease in a cohort of 123 European patients. Identification of 20 novel mutations.

Vieitez I et al.

Neuromuscular Disorders : Nmd, 2011

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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."