Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.R179C
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BPGM

NM_001724.5:p.R179C

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

Diagnostic Approaches to Investigate JAK2-Unmutated Erythrocytosis Based on a Single Tertiary Center Experience.

Lee Y et al.

Molecular Diagnosis & Therapy, 2024

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

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