Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.Q102K
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BPGM

NM_001724.5:p.Q102K

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

Dyshomeostatic modulation of Ca2+-activated K+ channels in a human neuronal model of KCNQ2 encephalopathy.

Simkin D et al.

Elife, 2021

33544076 (PubMed )
Supplement: elife-64434-supp3.xlsx › DP20.Q204par3_IsQ204.AllDiffere

Gene panel sequencing improves the diagnostic work-up of patients with idiopathic erythrocytosis and identifies new mutations.

Camps C et al.

Haematologica, 2016

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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."