Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R105_L106Splc
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HBB

NM_000518.5:p.R105_L106Splc

Associated Papers

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

Zhang Y et al.

Clinical Genetics, 2025

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

39858575 (PubMed )
Supplement: genes-16-00028-s001.zip › genes-3372072-supplementary.pdf

The genotype and phenotype analysis in 3 cases with the rare genotype of HBB:c.316-146T > G.

Cao YB et al.

Hematology (amsterdam, Netherlands), 2024

Prevalence of thalassemia-carrier couples and fertility risk assessment.

Wu LS et al.

International Journal of Hematology, 2024

Rare and New Mutations of B-Globin in Azari Population of Iran, a Considerable Diversity.

Abbasali FH et al.

Balkan Journal of Medical Genetics : Bjmg, 2023

Early genetic screening uncovered a high prevalence of thalassemia among 18 309 neonates in Guizhou, China.

Tan M et al.

Clinical Genetics, 2021

Hematological Characteristics of β-Globin Gene Mutation -50 (G>A) (HBB: c.-100G>A) Carriers in Mainland China.

Zhao Y et al.

Hemoglobin, 2020

Genotype/Phenotype Correlation of β-Thalassemia in Syrian Patients: A Cross-Sectional Study.

Shoujaa A et al.

Hemoglobin, 2020

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

First Report on the Coinheritance of α-Thalassemia and a Rare β-Thalassemia Compound Heterozygosity for the IVS-I-I(G>A)/IVS-II-705(T>G) Mutations in a Syrian Family.

Murad H et al.

Hemoglobin, 2019

A Novel β-Thalassemia Mutation in a Chinese family: IVS-II-203-205 (TCT>CC) (HBB: c.315+203TCT>CC).

Chen JK et al.

Hemoglobin, 2018

β‑thalassemia caused by compound heterozygous mutations and cured by bone marrow transplantation: A case report.

Wu L et al.

Molecular Medicine Reports, 2017

IVS-II-648/649 (-T) (HBB: c.316-202del) Triggers a Novel β-Thalassemia Phenotype.

Azimi A et al.

Hemoglobin, 2017

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Thalassemia intermedia due to a novel mutation in the second intervening sequence of the beta-globin gene.

Agouti I et al.

Hemoglobin, 2007

First Report of the Rare IVS-II-705 (T>G) β-Thalassemia Mutation in a Chinese Family.

Jiang F et al.

Hemoglobin, 0

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