Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E102A
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HBB

NM_000518.5:p.E102A

Associated Papers

First Report of Hb Youngstown in Capillary Electrophoresis and Overlapping Hb Analysis Findings with Hb Rush.

Poh KY et al.

Hemoglobin, 2024

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

Interactions of unstable hemoglobin Rush with thalassemia and hemoglobin E result in thalassemia intermedia.

Huang K et al.

Hematology (amsterdam, Netherlands), 2019

Unstable haemoglobin variant Hb Leiden is detected on Sysmex XN-Series analysers.

Jongbloed W et al.

Clinical Chemistry and Laboratory Medicine, 2018

Clinical presentation of the hemoglobin Youngstown variant in a Chinese family.

Huang Y et al.

Annals of Hematology, 2016

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

Hb Youngstown [β101(G3)Glu → Ala; HBB: c.305A > C]: An unstable hemoglobin variant causing severe hemolytic anemia.

Edward HL 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."