Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc
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HBB

NM_000518.5:p.R31Splc

Associated Papers

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

Spectrum of Beta-Thalassemia Mutations in Potential Carriers with Microcytic Hypochromic Anemia from Mazandaran and Golestan, Northern Provinces of Iran.

Mousavi SS et al.

Biomed Research International, 2024

The Spectrum of HBB Mutations among 2315 Beta Thalassemia Patients of a Reference Clinic in Tehran-Iran.

Bazazzadegan N et al.

Hemoglobin, 2023

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

Detection of a Rare Mutation in the Initiation Codon of the β-Globin Gene (HBB:C.2T > C; P.Met1Thr).

Shamoon R et al.

Hemoglobin, 2023

Beta Globin Gene Cluster Haplotypes in Beta Thalassemia in the Kurdistan Region of Iraq.

Al-Zebari S et al.

Hemoglobin, 2023

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

Genetic ancestry analysis on >93,000 individuals undergoing expanded carrier screening reveals limitations of ethnicity-based medical guidelines.

Kaseniit KE et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020

32595206 (PubMed )
Supplement: 41436_2020_869_MOESM2_ESM.xlsx › HBB

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

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

The Sub-Phenotypes of Sickle Cell Disease in Kuwait.

Adekile AD et al.

Hemoglobin, 2019

The Spectrum of β-Thalassemia Mutations in Hamadan Province, West Iran.

Alibakhshi R et al.

Hemoglobin, 2019

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

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hassan SM et al.

Hemoglobin, 2015

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

Shamoon RP et al.

Hemoglobin, 2015

Molecular diagnostics of the HBB gene in an Omani cohort using bench-top DNA Ion Torrent PGM technology.

Hassan SM et al.

Blood Cells, Molecules & Diseases, 2014

The molecular basis of β-thalassemia.

Thein SL

Cold Spring Harbor Perspectives in Medicine, 2013

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

Al-Allawi NA et al.

Hemoglobin, 2013

The spectrum of β-thalassemia mutations in Kermanshah Province in West Iran and its association with hematological parameters.

Mehrabi M et al.

Hemoglobin, 2013

Prenatal Diagnosis of Different Polymorphisms of β-globin Gene in Ahvaz.

Dehghanifard A et al.

International Journal of Hematology-oncology and Stem Cell Research, 2013

Genotype-phenotype relationship of patients with β-thalassemia taking hydroxyurea: a 13-year experience in Iran.

Karimi M et al.

International Journal of Hematology, 2012

Comprehensive spectrum of the β-Thalassemia mutations in Khuzestan, southwest Iran.

Galehdari H et al.

Hemoglobin, 2010

Profiling β-thalassaemia mutations in India at state and regional levels: implications for genetic education, screening and counselling programmes.

Sinha S et al.

The Hugo Journal, 2009

Molecular heterogeneity of beta-thalassemia in Algeria: how to face up to a major health problem.

Boudrahem-Addour N et al.

Hemoglobin, 2009

beta-Thalassemia mutations in the Iranian Kurdish population of Kurdistan and West Azerbaijan provinces.

Haghi M et al.

Hemoglobin, 2009

Molecular mechanisms underlying thalassemia intermedia in Iran.

Neishabury M et al.

Genetic Testing, 2008

Beta-thalassemia mutations in western India.

Sheth JJ et al.

Indian Journal of Pediatrics, 2008

Response to hydroxyurea treatment in Iranian transfusion-dependent beta-thalassemia patients.

Yavarian M et al.

Haematologica, 2004

Spectrum of beta-thalassemia in Jordan: identification of two novel mutations.

Sadiq MF et al.

American Journal of Hematology, 2001

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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."