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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:PMM2

Variant:p.G228G

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PMM2

NM_000303.3:p.G228G

hg38:chr16:8847768 C>G

Associated Papers

CRISPR/Cas9-based functional genomics strategy to decipher the pathogenicity of genetic variants in inherited metabolic disorders.

Muñoz-Pujol G et al.

Journal of Inherited Metabolic Disease, 2023

37718653 (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."