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
δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.
Rets AV et al.
Hemoglobin, 2020
The Biological Significance of Multi-copy Regions and Their Impact on Variant Discovery.
Sun J et al.
Genomics, Proteomics & Bioinformatics, 2020
32827758 (PubMed )
Supplement: mmc12.xlsx › Supplementary_table_6
A Wide Spectrum Study of α-Globin Chain Variants: Cases from the UK.
Khalil MSM et al.
Hemoglobin, 2020
Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.
Henderson SJ et al.
Hemoglobin, 2016
Aberrant glycated haemoglobin (HbA1c) results leading to haemoglobinopathy diagnosis in four Belgian patients.
Van Laer C et al.
Acta Clinica Belgica, 2014
Novel mutations responsible for α-thalassemia in Iranian families.
Bayat N et al.
Hemoglobin, 2013
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