Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.K57E
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HBA2

NM_000517.6:p.K57E

Associated Papers

Detection of Common α-Hemoglobin Variants in Thailand by Using Real-Time PCR with High Resolution Melting Analysis.

Muangpa S et al.

Hemoglobin, 2025

Novel Insights into Hb Shaare Zedek Associated with β0-Thalassemia: Molecular Characteristics, Genetic Origin and Diagnostic Approaches.

Satthakarn S et al.

International Journal of Molecular Sciences, 2024

Back-to-Back Comparison of Third-Generation Sequencing and Next-Generation Sequencing in Carrier Screening of Thalassemia.

Huang R et al.

Archives of Pathology & Laboratory Medicine, 2024

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."