Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E117K
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HBA2

NM_000517.6:p.E117K

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-HBA2

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Coinheritance of Sicilian (δβ)0-Thalassemia and Two Rare Hemoglobin Variants: A Complex Case of Hemoglobinopathy.

Eftekhari H et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2018

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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."