Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H90Y
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HBA1

NM_000558.5:p.H90Y

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

The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.

Sun J et al.

Genomics, Proteomics & Bioinformatics, 2020

32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
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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."