Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.R142H
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HBA2

NM_000517.6:p.R142H

Associated Papers

Hemoglobin suresnes combined with α0-thalassemia: Diagnostic challenges and insights from trio-based whole exome sequencing.

Liu HL et al.

Annals of Hematology, 2025

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

Horri-Naceur A et al.

Hemoglobin, 2020

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

Scheps KG et al.

Human Mutation, 2020

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