Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S50T
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HBB

NM_000518.5:p.S50T

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-HBB

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

The genetic basis and evolution of red blood cell sickling in deer.

Esin A et al.

Nature Ecology & Evolution, 2018

29255300 (PubMed )
Supplement: NIHMS75018-supplement-Supplemenatry_information.pdf

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H et al.

European Journal of Medical Genetics, 2016

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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."