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
Identification of Mutations Causing Aberrant Termination and Deficient Splice Donor Site on the HBA1 Gene.
Farashi S et al.
Hemoglobin, 2016
Hb G-Waimanalo [A1] or α64(E13)Asp→Asn (α1) (HBA1: c.193G>A) Observed in a Bulgarian Family.
Petkov G et al.
Hemoglobin, 2015
Severe α-thalassemia intermedia due to a compound heterozygosity for the highly unstable Hb Adana (HBA2: c.179G>A) and a novel codon 24 (HBA2: c.75T>A) mutation.
Megawati D et al.
Hemoglobin, 2014
Select a paper to view details