Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.A54D
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HBA2

NM_000517.6:p.A54D

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 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

Hemoglobin A2 and Heterogeneous Diagnostic Relevance Observed in Eight New Variants of the Delta Globin Gene.

Mahmud N et al.

Genes, 2021

Cis-Acting Factors Causing Secondary Epimutations: Impact on the Risk for Cancer and Other Diseases.

Ruiz de la Cruz M et al.

Cancers, 2021

In Silico Analysis of the Effects of Point Mutations on α-Globin: Implications for α-Thalassemia.

Horri-Naceur A et al.

Hemoglobin, 2020

Investigating alpha-globin structural variants: a retrospective review of 135,000 Brazilian individuals.

Kimura EM et al.

Revista Brasileira De Hematologia E Hemoterapia, 0

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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."