Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.A23V
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HBD

NM_000519.4:p.A23V

Associated Papers

Mutational spectrum of HBD gene in the Chinese population: Description of 36 mutations including 11 novel variants.

Xu A et al.

International Journal of Laboratory Hematology, 2023

Genetics of fetal hemoglobin in tribal Indian patients with sickle cell anemia.

Bhanushali AA et al.

Translational Research : the Journal of Laboratory and Clinical Medicine, 2015

First report of the spectrum of δ-globin gene mutations in Omani subjects - identification of novel mutations.

Alkindi S et al.

International Journal of Laboratory Hematology, 2015

A study of δ-globin gene mutations in the UK population: identification of three novel variants and development of a novel DNA test for Hb A'2.

Khalil MS et al.

Hemoglobin, 2014

Fetal hemoglobin in sickle cell anemia: genetic studies of the Arab-Indian haplotype.

Ngo D et al.

Blood Cells, Molecules & Diseases, 2013

A functional promoter polymorphism of the δ-globin gene is a specific marker of the Arab-Indian haplotype.

Alsultan A et al.

American Journal of Hematology, 2012

Occurrence of common and rare δ-globin gene defects in two multiethnic populations: thirteen new mutations and the significance of δ-globin gene defects in β-thalassemia diagnostics.

Phylipsen M et al.

International Journal of Laboratory Hematology, 2011

Known and new delta globin gene mutations and their diagnostic significance.

Bouva MJ et al.

Haematologica, 2006

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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."