Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.K43Q
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BPGM

NM_001724.5:p.K43Q

Associated Papers

Biphosphoglycerate Mutase: A Novel Therapeutic Target for Malaria?

Azzuolo A et al.

Transfusion Medicine Reviews, 2023

Heterozygosity for bisphosphoglycerate mutase deficiency expressing clinically as congenital erythrocytosis: A case series and literature review.

van Dijk MJ et al.

British Journal of Haematology, 2023

Genotype-Phenotype Correlation of Hereditary Erythrocytosis Mutations, a single center experience.

Oliveira JL et al.

American Journal of Hematology, 2018

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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."