Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.Q40*
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HBD

NM_000519.4:p.Q40*

Associated Papers

Identification of a New δ chain hemoglobin Variant, Hb A2-Malay [δ46(CD5)Gly > Arg, HBD: C.139G > C;316-443A > G].

Hassan S et al.

Hemoglobin, 2025

A next-generation sequencing-based universal target panel and algorithm for one-stop detection of copy number alterations and single-nucleotide variations in the HBB gene cluster for rapid diagnosis of β-thalassemia.

Pal D et al.

Molecular Biology Reports, 2025

Molecular and hematological characteristics of two different δ-globin promoter variants, δ-276(A>G) and δ-77(T >C) among Thai, Burmese, and Laotian subjects.

Panyasai S et al.

Peerj, 2025

Prospective screening for δ-hemoglobinopathies associated with decreased hemoglobin A2 levels or hemoglobin A2 variants: A single center experience.

Hanart C et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

δ-Hemoglobinopathies in Thailand: screening, molecular basis, genotype-phenotype interaction, and implication for prevention and control of thalassemia.

Singha K et al.

Annals of Hematology, 2021

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

Rets AV et al.

Hemoglobin, 2020

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

The importance of β globin deletion analysis in the evaluation of patients with β thalassemia.

Mikula M et al.

International Journal of Laboratory Hematology, 2011

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

Analysis of delta-globin gene alleles in the Sicilian population: identification of five new mutations.

Giambona A et al.

Haematologica, 2006

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."