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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:TPI1

Variant:p.A137T

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TPI1

NM_000365.6:p.A137T

hg38:chr12:6869342 G>A

Associated Papers

Red cell pyruvate kinase deficiency: 17 new mutations of the PK-LR gene.

Fermo E et al.

British Journal of Haematology, 2005

15953013 (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."