Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.H59N
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HBA2

NM_000517.6:p.H59N

Associated Papers

Structural and clinical characterization of Hb Móstoles (HBA2:c.176A>G; p.His59Arg): a new unstable alpha-globin variant with thalassemic features.

Ferrer-Benito S et al.

American Journal of Blood Research, 2025

Hb H disease associated with compound heterozygosity for --SEA deletion and a novel alpha globin chain variant (HBA2:c.175C>A) on the distal histidine in a Chinese family.

Sun M et al.

Hematology (amsterdam, Netherlands), 2024

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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."