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-Full_dataset
De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.
Melamed D et al.
Genome Research, 2022
35031571 (PubMed )
Supplement: supp_gr.276103.121_Supplemental_Material.pdf
A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.
Chen J et al.
Hematology (amsterdam, Netherlands), 2020
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