Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc
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HBB

NM_000518.5:p.R31Splc

Associated Papers

Carrier screening for multiple complex monogenic diseases using long-read sequencing: a population-based study of premarital couples in Shanghai.

Hua R et al.

Human Genomics, 2025

Haplotype-Resolved Genotyping and Association Analysis of 1,020 β-Thalassemia Patients by Targeted Long-Read Sequencing.

Ye Y et al.

Advanced Science (weinheim, Baden-wurttemberg, Germany), 2025

39737841 (PubMed )
Supplement: ADVS-12-2410992-s004.xlsx › Sheet1

Analysis of genotypic distribution and rare variants of patients with α/β-thalassemia screened in one hospital in Beijing, China.

Zhang H et al.

Human Genomics, 2025

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

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

Al-Zebari S et al.

Hemoglobin, 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-Full_dataset

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

Molecular and geographical heterogeneity of hemoglobinopathy mutations in Azerbaijanian populations.

Aliyeva G et al.

Annals of Human Genetics, 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

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

Geographical distribution of β-globin gene mutations in Syria.

Murad H et al.

Hematology (amsterdam, Netherlands), 2018

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

Hassan SM et al.

Hemoglobin, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 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 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

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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."