Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P126fs
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HBB

NM_000518.5:p.P126fs

Associated Papers

Novel HBB:c.375_376delAC mutation in a Malay patient with HbE beta-thalassemia intermedia: A case report.

Aziz NA et al.

Medicine, 2025

Dominant inherited β-thalassemia intermedia in a Polish family due to a novel frameshift mutation in HBB.

Novak W et al.

Pediatric Blood & Cancer, 2023

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

Molecular heterogeneity of β-thalassemia variants in the Eastern region of Morocco.

Belmokhtar I et al.

Molecular Genetics & Genomic Medicine, 2022

The spectrum of beta-thalassemia mutations in the 22 Arab countries: a systematic review.

Khan AM et al.

Expert Review of Hematology, 2021

Genetic Background of β-Thalassemia in Northeast Algeria with Assessment of the Thalassemia Severity Score and Description of a new β0-Thalassemia Frameshift Mutation (HBB: c.374dup; p.Pro126Thrfs*15).

Abdaoui W et al.

Hemoglobin, 0

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