Varaico: Literature-Extracted Genetic Variants

Gene:BPGM
Variant:p.R21delFs
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BPGM

NM_001724.5:p.R21delFs

Associated Papers

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

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."