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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.Y85fs

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PYGM

NM_005609.4:p.Y85fs

hg38:chr11:64758693 G>GN

Associated Papers

Diagnosis and management of children with McArdle Syndrome (GSD V) in New South Wales.

Adams L et al.

Jimd Reports, 2023

37701325 (PubMed )

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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."