Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.R117H
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HBD

NM_000519.4:p.R117H

Associated Papers

Two Novel δ-Globin Chain Variants Identified in the Chinese Population.

Su Z et al.

Hemoglobin, 2026

Unveiling the molecular landscape of δ-thalassemia and δ-globin variants in southern China: novel mutations, gene spectrum, and implications for thalassemia diagnosis.

Li Y et al.

Frontiers in Genetics, 2025

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

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

Molecular Characterization of δ-Thalassemia in Iran.

Kordafshari A et al.

Hemoglobin, 2016

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

Analysis of δ-globin gene mutations in the Chinese population.

Liu N et al.

Hemoglobin, 2013

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

Genotype-phenotype relationship of the δ-thalassemia and Hb A(2) variants: observation of 52 genotypes.

Lacerra G et al.

Hemoglobin, 2010

Molecular evidences of single mutational events followed by recurrent crossing-overs in the common delta-globin alleles in the Mediterranean area.

Lacerra G et al.

Gene, 2008

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

Giambona A et al.

Haematologica, 2006

Epidemiology of the delta globin alleles in southern Italy shows complex molecular, genetic, and phenotypic features.

De Angioletti M et al.

Human Mutation, 2002

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