Varaico: Literature-Extracted Genetic Variants

Gene:ITGA2B
Variant:p.R63Splc
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ITGA2B

NM_000419.5:p.R63Splc

Associated Papers

Genotypic Characterization of Thalassemia in Huadu District, Guangzhou, China: A Single-Center Retrospective Study.

Run G et al.

Hemoglobin, 2025

Large-Scale Analysis of the Thalassemia Mutation Spectrum in Guizhou Province, Southern China, Using Third-Generation Sequencing.

Zhang Y et al.

Clinical Genetics, 2025

A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.

Song M et al.

Blood Advances, 2025

40197981 (PubMed )
Supplement: BLOODA_ADV-2024-013695-mmc3.docx

Molecular spectrum and prevalence of thalassemia investigated by third-generation sequencing in the Dongguan region of Guangdong Province, Southern China.

Lou J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Next-generation sequencing analysis of the molecular spectrum of thalassemia in Southern Jiangxi, China.

Yang T et al.

Human Genomics, 2023

Non-invasive prenatal screening & diagnosis of β-thalassaemia in an affected foetus.

Suwannakhon N et al.

The Indian Journal of Medical Research, 2023

Direct sequencing of β-globin gene reveals a rare combination of two exonic and two intronic variants in a β-thalassemia major patient: a case report.

Chauhan W et al.

Journal of Medical Case Reports, 2022

Molecular Spectrum, Ethnic and Geographical Distribution of Thalassemia in the Southern Area of Hainan, China.

Yu Y et al.

Frontiers in Pediatrics, 2022

Molecular prevalence of HBB-associated hemoglobinopathy among reproductive-age adults and the prenatal diagnosis in Jiangxi Province, southern central China.

Luo H et al.

Frontiers in Genetics, 2022

Multiplex Quantitative Real-Time Polymerase Chain Reaction and High-Resolution Melting Analysis for Identification of a Couple At-Risk of Having a Newborn with Severe Thalassemia.

Ruengdit C et al.

Hemoglobin, 2021

Molecular Characterization of α- and β-Thalassaemia Among Children From 1 to 10 Years of Age in Guangxi, A Multi-Ethnic Region in Southern China.

He S et al.

Frontiers in Pediatrics, 2021

Molecular analysis of α-thalassemia and β-thalassemia in Quanzhou region Southeast China.

Zhuang J et al.

Journal of Clinical Pathology, 2020

Molecular analysis of hemoglobinopathies in a large ethnic Hakka population in southern China.

Zhao P et al.

Medicine, 2018

Molecular characterization of α- and β-thalassemia in the Yulin region of Southern China.

He S et al.

Gene, 2018

Prevalence and genetic analysis of α- and β-thalassemia in Baise region, a multi-ethnic region in southern China.

He S et al.

Gene, 2017

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Global burden, distribution and prevention of β-thalassemias and hemoglobin E disorders.

Colah R et al.

Expert Review of Hematology, 2010

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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."