Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.L30L
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HBA2

NM_000517.6:p.L30L

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

Phenotypic variation in sickle cell disease: the role of beta globin haplotype, alpha thalassemia, and fetal hemoglobin in HbSS.

Serjeant GR

Expert Review of Hematology, 2022

Ten Years of Routine α- and β-Globin Gene Sequencing in UK Hemoglobinopathy Referrals Reveals 60 Novel Mutations.

Henderson SJ et al.

Hemoglobin, 2016

Inherited hemoglobin disorders in an Afro-Amazonian community: Saracura.

Cardoso GL et al.

Genetics and Molecular Biology, 2012

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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."