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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.E9delFs

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PYGM

NM_005609.4:p.E9delFs

hg38:chr11:64759873 TC>T

Associated Papers

McArdle Disease: Clinical, Biochemical, Histological and Molecular Genetic Analysis of 60 Patients.

Joshi PR et al.

Biomedicines, 2020

32075227 (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."