Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

Genotype-Phenotype Correlation of Seven Known and Novel β-Globin Gene Variants.

Singha K et al.

International Journal of Molecular Sciences, 2025

Complete molecular spectrum of β-globin gene mutations via direct sequencing identifies seven novel variants in β-thalassemia major.

Sadoon TA et al.

Plos One, 2025

Third-Generation Sequencing as a New Comprehensive Technology for Identifying Rare α- and β-Globin Gene Variants in Thalassemia Alleles in the Chinese Population.

Zhuang J et al.

Archives of Pathology & Laboratory Medicine, 2023

A First Clinical and Molecular Study of Rare IVS-II-806 (G > C) (HBB:c.316-45G > C) Variant in the β-globin Gene: A Possibly Benign Variant.

Zhuang J et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2023

Evaluation of in silico predictors on short nucleotide variants in HBA1, HBA2, and HBB associated with haemoglobinopathies.

Tamana S et al.

Elife, 2022

36453528 (PubMed )
Supplement: elife-79713-supp2.xlsx › Input-HBB

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

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Zhuang J et al.

Frontiers in Genetics, 2021

A comprehensive review of the prevalence of beta globin gene variations and the co-inheritance of related gene variants in Saudi Arabians with beta-thalassemia.

Alaithan MA et al.

Saudi Medical Journal, 2018

Genotype-phenotype Correlation of β-Thalassemia in Croatian Patients: A Specific HBB Gene Mutations.

Vucak J et al.

Journal of Pediatric Hematology/oncology, 2018

The Frequency of HBB Mutations Among β-Thalassemia Patients in Hamadan Province, Iran.

Jalilian M et al.

Hemoglobin, 2017

The molecular characterization of Beta globin gene in thalassemia patients reveals rare and a novel mutations in Pakistani population.

Yasmeen H et al.

European Journal of Medical Genetics, 2016

Mutations in the β-globin gene from a Saudi population: an update.

Borgio JF et al.

International Journal of Laboratory Hematology, 2016

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

The association between intragenic SNP haplotypes and mutations of the beta globin gene in a Turkish population.

Bilgen T et al.

Blood Cells, Molecules & Diseases, 2011

Molecular Epidemiology and Hematologic Characterization of Thalassemia in Guangdong Province, Southern China.

Xian J et al.

Clinical and Applied Thrombosis/hemostasis : Official Journal of the International Academy of Clinical and Applied Thrombosis/hemostasis, 0

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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."