Associated Papers
Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.
Singha K et al.
International Journal of Molecular Sciences, 2025
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
Accurate genotype diagnosis of Hong Kongαα thalassemia based on third-generation sequencing.
Li J et al.
Annals of Translational Medicine, 2022
The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Correction to: The value of single-molecule real-time technology in the diagnosis of rare thalassemia variants and analysis of phenotype-genotype correlation.
Luo S et al.
Journal of Human Genetics, 2022
Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.
Cirulli ET et al.
Nature Communications, 2020
31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf
Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.
Scheps KG et al.
Human Mutation, 2020
A Novel Frameshift Mutation at Codon 2 (-T) (HBB: c.9delT) and First Report of Three New β-Globin Mutations From Azerbaijan.
Bayramov B et al.
Hemoglobin, 0
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