Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.R90H
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BPGM

NM_001724.5:p.R90H

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

Uniparental disomy (UPD) of a novel bisphosphoglycerate mutase (BPGM) mutation leading to erythrocytosis.

Lazana I et al.

British Journal of Haematology, 2021

Congenital erythrocytosis.

McMullin MF

International Journal of Laboratory Hematology, 2016

Factors influencing success of clinical genome sequencing across a broad spectrum of disorders.

Taylor JC et al.

Nature Genetics, 2015

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

Petousi N et al.

Haematologica, 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."