Associated Papers
Hb Ryazan: An Elongated C-Terminal β-Chain Due to a New Frameshift Mutation, HBB: c.396delG p.Val133Trpfs*25.
Demidova E et al.
Hemoglobin, 2023
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
A Novel β0-Thalassemia Mutation, HBB: c.356_357delTT [Codon 118 (-TT)] in an Iraqi Kurd.
Atroshi SD et al.
Hemoglobin, 2021
Compound Heterozygote for a Novel Elongated C-Terminal β-Globin Variant (HBB: c.364delG) and Hb E (HBB: c.79G>A) with Heterozygous α-Thalassemia-2.
Nuinoon M et al.
Hemoglobin, 2019
Clinical Genotyping by Next Generation Sequencing Reveals a Novel, De Novo β-Globin Gene Mutation Causing Hemolytic Anemia in a Chinese Individual.
Pu J et al.
Hemoglobin, 2018
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