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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PYGM

Variant:p.Q115_L116Splc

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PYGM

NM_005609.4:p.Q115_L116Splc

hg38:chr11:64758602 C>T

Associated Papers

McArdle disease: a case report and review.

Leite A et al.

International Medical Case Reports Journal, 2012

23754915 (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."