Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.V266V
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PGK1

NM_000291.4:p.V266V

Associated Papers

Phosphoglycerate kinase deficiency due to a novel mutation (c. 1180A>G) manifesting as chronic hemolytic anemia in a Japanese boy.

Tamai M et al.

International Journal of Hematology, 2014

Molecular insights on pathogenic effects of mutations causing phosphoglycerate kinase deficiency.

Chiarelli LR et al.

Plos One, 2012

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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."