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 classification of blood and bleeding disorder genes.
Baz B et al.
Npj Genomic Medicine, 2021
34272389 (PubMed )
Supplement: 41525_2021_228_MOESM1_ESM.pdf
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
Improvements in phenotype studies of hemoglobin disorders brought by advances in reversed-phase chromatography of globin chains.
Riou J et al.
International Journal of Laboratory Hematology, 2015
Hemoglobin analyses in the Netherlands reveal more than 80 different variants including six novel ones.
van Zwieten R et al.
Hemoglobin, 2014
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