Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.G137D
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HBD

NM_000519.4:p.G137D

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

δ-Globin Chain Variants Associated with Decreased Hb A2 Levels: A National Reference Laboratory Experience.

Rets AV et al.

Hemoglobin, 2020

Analysis of deletional hereditary persistence of fetal hemoglobin/δβ-thalassemia and δ-globin gene mutations in Southerwestern China.

Zhang J et al.

Molecular Genetics & Genomic Medicine, 2019

Haemoglobinopathies that occur with decreased HbA2 levels: a gene mutation set involving the δ gene at a Spanish centre.

Villegas A et al.

Journal of Clinical Pathology, 2017

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

Known and new δ-globin gene mutations and other factors influencing Hb A2 measurement in the Omani population.

Hassan SM et al.

Hemoglobin, 2014

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

Mutational spectrum of delta-globin gene in the Portuguese population.

Morgado A et al.

European Journal of Haematology, 2007

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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."