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
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
In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.
Horri-Naceur A et al.
Hemoglobin, 2020
Characterization of deletional and non-deletional alpha globin variants in a large cohort from Spain between 2009 and 2014.
de la Fuente-Gonzalo F et al.
Annals of Hematology, 2019
Genome-wide analysis to predict protein sequence variations that change phosphorylation sites or their corresponding kinases.
Ryu GM et al.
Nucleic Acids Research, 2009
19139070 (PubMed )
Supplement: gkn1008_nar-01723-s-2008-File009.xls › TypeI_
alpha-Thalassemia caused by two novel splice mutations of the alpha2-globin gene: IVS-I-1 (G>A and G>T).
Waye JS et al.
Hemoglobin, 2009
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