Associated Papers
When a synonymous mutation breaks the silence in a thalassaemia patient.
Gorivale M et al.
British Journal of Haematology, 2024
A synonymous variant is unmasked in thalassaemia.
Hunt RC et al.
British Journal of Haematology, 2024
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
Transcriptome Analyses of β-Thalassemia -28(A>G) Mutation Using Isogenic Cell Models Generated by CRISPR/Cas9 and Asymmetric Single-Stranded Oligodeoxynucleotides (assODNs).
Li J et al.
Frontiers in Genetics, 2020
Gene expression in blood from an individual with β-thalassemia: An RNA sequence analysis.
Taghavifar F et al.
Molecular Genetics & Genomic Medicine, 2019
MutPred Splice: machine learning-based prediction of exonic variants that disrupt splicing.
Mort M et al.
Genome Biology, 2014
24451234 (PubMed )
Supplement: gb-2014-15-1-r19-S1.pdf
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