Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A11V
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HBD

NM_000519.4:p.A11V

Associated Papers

Hb A2-Getafe [δ 132 (H10) Lys > Thr, HBD: c.88C > A]: New Mutation in the δ-Globin Gene in a Spanish Patient.

Torrado Carrión RA et al.

Hemoglobin, 2025

A New Mutation, Hb A2-Canakkale [δ10(A7)Ala→Val; HBD: c.32C>T], and Other Well-Known δ Variants Identified in a Selected Cohort with Low Hb A2 Levels.

Karakaya T et al.

Hemoglobin, 2022

Molecular and Hematological Analysis of Alpha- and Beta-Thalassemia in a Cohort of Mexican Patients.

Rizo-de la Torre LDC et al.

Genetic Testing and Molecular Biomarkers, 2021

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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."