Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G70fs
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HBB

NM_000518.5:p.G70fs

Associated Papers

εγ-Thalassemia, a New Hemoglobinopathy Category.

Oliveira JL et al.

Clinical Chemistry, 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-HBB

Interpreting sulfhemoglobin and methemoglobin in patients with cyanosis: An overview of patients with M-hemoglobin variants.

Rangan A et al.

International Journal of Laboratory Hematology, 2021

β-Thalassemia major resulting from compound heterozygosity for HBB: c.92+2T>C [formerly known as IVS-I-2 (T>C)] and a novel β(0)-thalassemia frameshift mutation: HBB: c.209delG; p.Gly70Valfs*20.

Kluge ML et al.

Hemoglobin, 2014

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."