Varaico: Literature-Extracted Genetic Variants

Gene:PGK1
Variant:p.N249S
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PGK1

NM_000291.4:p.N249S

Associated Papers

Isolated Hemolytic Anemia in Phosphoglycerate Kinase 1 Deficiency Associated with a Novel PGK1:c.746 A > G;p.(Asn249Ser) Variant.

Jitani A et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2025

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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."