Varaico: Literature-Extracted Genetic Variants

Gene:HBA2
Variant:p.P115L
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HBA2

NM_000517.6:p.P115L

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

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

Two co-inherited hemoglobin variants revealed by capillary electrophoresis during quantification of glycated hemoglobin.

Antonello G et al.

Clinical Chemistry and Laboratory Medicine, 2022

Hb Hezhou [β64(E8)Gly→Ser; HBB: c.193G>A]: A Novel Variant on the β-Globin Gene.

Zhao YL et al.

Hemoglobin, 2021

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

Horri-Naceur A et al.

Hemoglobin, 2020

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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."