Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.E117Q
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HBA2

NM_000517.6:p.E117Q

Associated Papers

Newborn Screening for Sickle Cell Disease: Results from a Pilot Study in the Portuguese Population.

Rodrigues D et al.

International Journal of Neonatal Screening, 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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