Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.H3delFs
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HBB

NM_000518.5:p.H3delFs

Associated Papers

Systematic Review of Non-Coding Genomic Variants in Globin and Non-Globin Clusters and Their Impact on Phenotypic Severity in Thalassemia and Sickle Cell Disease.

Al-Subaie AM et al.

Journal of Clinical Medicine, 2026

41753033 (PubMed )
Supplement: jcm-15-01345-s001.zip › jcm-4040495-supplementary.pdf

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 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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