Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G25V
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HBB

NM_000518.5:p.G25V

Associated Papers

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

Hb Calgary (HBB: c.194G>T): A Highly Unstable Hemoglobin Variant with a β-Thalassemia Major Phenotype.

Martin G et al.

Hemoglobin, 2021

Hb F-Wentzville [Gγ24(B6)Gly→Glu; HBG2: c.74G>A, p.Gly25Glu]: An Unstable Gγ-Globin Variant Associated with Neonatal Hemolytic Anemia.

Semkiu KM et al.

Hemoglobin, 2020

Hb Moscva [β24(B6)Gly→Asp (GGT>GAT), HBB: c.74G>A]: An Unstable Hemoglobin Newly Detected as a De Novo Mutation in a Mauritanian Patient.

Ghaber SM et al.

Hemoglobin, 2018

Beta globin frameworks in thalassemia major patients from north iran.

Akhavan-Niaki H et al.

Iranian Journal of Pediatrics, 2012

Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.

Moatter T et al.

International Journal of Hematology, 2012

Potential of denaturing gradient gel electrophoresis for scanning of beta-thalassemia mutations in India.

Gorakshakar AC et al.

American Journal of Hematology, 1999

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