Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L89delFs
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HBB

NM_000518.5:p.L89delFs

Associated Papers

Comprehensive analysis of sickle β+-thalassemia genotypes and their associated HbA levels in France.

Baltus C et al.

Blood Cells, Molecules & Diseases, 2025

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 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-HBB

Evolutionary history of sickle-cell mutation: implications for global genetic medicine.

Esoh K et al.

Human Molecular Genetics, 2021

33461216 (PubMed )
Supplement: hmgreview_supp_mat_ddab004.docx

Cell-derived microparticles and sickle cell disease chronic vasculopathy in sub-Saharan Africa: A multinational study.

Dembélé AK et al.

British Journal of Haematology, 2021

Genetic Background of the Sickle Cell Disease Pediatric Population of Dakar, Senegal, and Characterization of a Novel Frameshift β-Thalassemia Mutation [HBB: c.265_266del; p.Leu89Glufs*2].

Gueye Tall F et al.

Hemoglobin, 2017

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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