Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc
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HBB

NM_000518.5:p.R31Splc

Associated Papers

Molecular and structural characterization of a novel β-hemoglobinopathy caused by in Cis β-globin mutations in a Thai individual.

Singha K et al.

Scientific Reports, 2025

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

Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.

Satthakarn S et al.

Hemoglobin, 2020

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

Molecular characterisation of haemoglobin E-Udon Thani (HBB:c.[79G>A;92+7A>G]): a novel form of Hb E-β-thalassaemia syndrome.

Singha K et al.

Journal of Clinical Pathology, 2019

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