Associated Papers
Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.
Graves LE et al.
Frontiers in Endocrinology, 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-HBB
A novel β-thalassemia variant at HBB:c.14delC (Codon 4, -C) identified via next-generation sequencing.
Chen J et al.
Hematology (amsterdam, Netherlands), 2020
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s5.xls › VaribenchSelectedPure
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