Varaico: Literature-Extracted Genetic Variants

Gene:HBA1
Variant:p.H59L
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HBA1

NM_000558.5:p.H59L

Associated Papers

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

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBA1

Hemoglobin Kirklareli [Α2 59(E7) His>Leu; HBA2:c.176A>T] in a Brazilian child with severe dyspnea and low O2 saturation.

Pedroso GA et al.

Annals of Hematology, 2019

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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."