Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E28*
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HBA2

NM_000517.6:p.E28*

Associated Papers

Detection of 13 Novel Variants and Investigation of Mutation Distribution by Next Generation Sequencing in Hemoglobinopathies: A Single Center Experience.

Ozalp O et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2024

Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.

Lacerra G et al.

Hemoglobin, 2010

Significance of borderline hemoglobin A2 values in an Italian population with a high prevalence of beta-thalassemia.

Giambona A et al.

Haematologica, 2008

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

De Angioletti M et al.

Human Mutation, 2002

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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."