Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.R62Q
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BPGM

NM_001724.5:p.R62Q

Associated Papers

New human bisphosphoglycerate mutase structures provide insights into the structural basis of BPGM deficiency and citrate inhibition.

Martínez-Rodríguez S et al.

International Journal of Biological Macromolecules, 2026

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

Erythrocytosis associated with EPAS1(HIF2A), EGLN1(PHD2), VHL, EPOR or BPGM mutations: The Mayo Clinic experience.

Gangat N et al.

Haematologica, 2022

Bisphosphoglycerate Mutase Deficiency Protects against Cerebral Malaria and Severe Malaria-Induced Anemia.

Xu G et al.

Cell Reports, 2020

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

Oliveira JL et al.

American Journal of Hematology, 2018

Erythrocytosis associated with a novel missense mutation in the BPGM gene.

Petousi N et al.

Haematologica, 2014

Genetic basis of congenital erythrocytosis: mutation update and online databases.

Bento C et al.

Human Mutation, 2014

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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."