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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.E665Q

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PYGM

NM_005609.4:p.E665Q

hg38:chr11:64750560 C>G

Associated Papers

Molecular analysis of myophosphorylase deficiency in Dutch patients with McArdle's disease.

Martín MA et al.

Annals of Human Genetics, 2004

14748827 (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."