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
Molecular and phenotype characterization of an elongated β-globin variant produced by HBB:C.313delA.
Lin W et al.
International Journal of Laboratory Hematology, 2021
Compound Heterozygosity for a Novel Mutation Codon 104 (-A) (HBB: c.313delA) and Codons 41/42 (-CTTT) (HBB: c.126_129delCTTT) Leading to β-Thalassemia Major in a Chinese Family.
Qiu Y et al.
Hemoglobin, 2020
Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.
Zhao Y et al.
Hemoglobin, 2020
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