Varaico: Literature-Extracted Genetic Variants

Gene:HBD
Variant:p.T5I
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HBD

NM_000519.4:p.T5I

Associated Papers

Relevance of Next-Generation Sequencing in the Diagnosis of Thalassemia and Hemoglobinopathies: The Experience of Four Italian Diagnostic Hubs.

Selvatici R et al.

Genes, 2024

Hb A2 Episkopi - a novel δ-globin chain variant [HBD:c.428C>T] in a family of mixed Cypriot-Lebanese descent.

Lederer CW et al.

Hematology (amsterdam, Netherlands), 2017

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

The molecular spectrum and distribution of haemoglobinopathies in Cyprus: a 20-year retrospective study.

Kountouris P et al.

Scientific Reports, 2016

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

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

Two complex associations of an HBD mutation and a rare α hemoglobinopathy.

Joly P et al.

Hemoglobin, 2013

First detection of Hb Taybe [α38(C3) or α39(C4) Thr→0 (α1)] in an Italian child.

Paglietti ME et al.

Hemoglobin, 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

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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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."