Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.L33Q
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HBB

NM_000518.5:p.L33Q

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

Rare cause of transfusion-dependent hemolytic anemia: A case report of HbE/Hb Nottingham and literature review.

Aziz A et al.

Pediatric Blood & Cancer, 2022

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.

Hamid M et al.

Archives of Iranian Medicine, 2022

A Novel Human β-Globin Gene Variant [Hb London-Ontario, HBB: c.332T>G] is Associated with Transfusion-Dependent Anemia in a Patient with a Hemoglobin Electrophoresis Pattern Consistent with β-Thalassemia Trait.

Bienz MN et al.

Hemoglobin, 2019

Diverse hematological phenotypes of β-thalassemia carriers.

Luo HY et al.

Annals of the New York Academy of Sciences, 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."