Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.T40del1
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HBA2

NM_000517.6:p.T40del1

Associated Papers

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-HBA2

A combination of two novel alpha globin variants Hb Bridlington (HBA1) and Hb Taybe (HBA2) resulting in severe hemolysis, pulmonary hypertension, and death.

Hill QA et al.

Hematology (amsterdam, Netherlands), 2015

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