Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc
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HBB

NM_000518.5:p.R31Splc

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

Prevalence and Spectrum of β-Thalassemia Mutations in Baghdad, Iraq: Data from the Premarital Screening Program.

Hassan MK et al.

Hemoglobin, 2025

Distinct Distribution of HBB Variants in Two Cohorts of Beta Thalassemia Patients, and a Novel Variant from Turkey.

Kocak Eker H et al.

Molecular Syndromology, 2024

Updated Molecular Spectrum of β-Thalassemia Mutations in Duhok Province, Northern Iraq: Ethnic Variation and the Impact of Immigration.

Atroshi SD et al.

Hemoglobin, 2021

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

Shoujaa A et al.

Hemoglobin, 2020

Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq.

Amin S et al.

International Journal of General Medicine, 2020

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

Patsali P et al.

Journal of Clinical Medicine, 2019

Prevalence and mutations of β-thalassemia trait and abnormal hemoglobins in premarital screening in Çanakkale province, Turkey.

Uludağ A et al.

Balkan Journal of Medical Genetics : Bjmg, 2016

Molecular Basis of β-Thalassemia Intermedia in Erbil Province of Iraqi Kurdistan.

Shamoon RP et al.

Hemoglobin, 2015

Molecular Basis of β-Thalassemia in the Population of the Aegean Region of Turkey: Identification of A Novel Deletion Mutation.

Ozkinay F et al.

Hemoglobin, 2015

[The comparative characteristic of two methods of detection of mutations of beta-globin gene].

Abdulalimov ER et al.

Klinicheskaia Laboratornaia Diagnostika, 2014

Molecular update of β-thalassemia mutations in the Syrian population: identification of rare β-thalassemia mutations.

Jarjour RA et al.

Hemoglobin, 2014

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

Identification of two rare β-globin gene mutations in a patient with β-thalassemia intermedia from Azerbaijan.

Asadov CD et al.

Hemoglobin, 2013

The spectrum of β-thalassemia mutations in Baghdad, Central Iraq.

Al-Allawi NA et al.

Hemoglobin, 2013

Genotyping of β-globin gene mutations in single lymphocytes: a preliminary study for preimplantation genetic diagnosis of monogenic disorders.

Durmaz B et al.

Hemoglobin, 2012

Sickle cell disease in the Kurdish population of northern Iraq.

Al-Allawi NA et al.

Hemoglobin, 2012

Beta-globin gene mutations in children with beta-thalassemia major from Şanlıurfa province, Turkey.

Ayçiçek A et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2011

Genetic predisposition to β-thalassemia and sickle cell anemia in Turkey: a molecular diagnostic approach.

Basak AN et al.

Methods in Molecular Biology (clifton, N.j.), 2011

Hydroxyurea-induced hematological response in transfusion-independent beta-thalassemia intermedia: case series and review of literature.

Ehsani MA et al.

Pediatric Hematology and Oncology, 2009

The molecular pathology of beta-thalassemia in Turkey: the Boğaziçi university experience.

Basak AN

Hemoglobin, 2007

Beta-thalassemia mutations in Denizli province of Turkey.

Yıldız S et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2005

Contribution to the description of the beta-thalassemia spectrum in Tunisia and the origin of mutation diversity.

Chouk I et al.

Hemoglobin, 2004

Real-time PCR for single-cell genotyping in sickle cell and thalassemia syndromes as a rapid, accurate, reliable, and widely applicable protocol for preimplantation genetic diagnosis.

Vrettou C et al.

Human Mutation, 2004

History and origin of beta-thalassemia in Turkey: sequence haplotype diversity of beta-globin genes.

Tadmouri GO et al.

Human Biology, 2001

Molecular characterization of beta-thalassemia in Syria.

Kyriacou K et al.

Hemoglobin, 2000

The molecular heterogeneity of beta-thalassemia in Greece.

Boussiou M et al.

Blood Cells, Molecules & Diseases, 0

Frequency of positive XmnIGgamma polymorphism and coinheritance of common alpha thalassemia mutations do not show statistically significant difference between thalassemia major and intermedia cases with homozygous IVSII-1 mutation.

Neishabury M et al.

Blood Cells, Molecules & Diseases, 0

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