Associated Papers
Mutation Analysis of Exon 1 in the Hemoglobin Subunit Beta (HBB) Gene in Beta-Thalassemia.
Kumar KS et al.
Cureus, 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-Full_dataset
Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.
Martin G et al.
Hemoglobin, 2021
A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.
Bienz MN et al.
Hemoglobin, 2019
Two novel unstable hemoglobin variants due to in-frame deletions of key amino acids in the β-globin chain.
Scheps KG et al.
European Journal of Haematology, 2018
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