Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.G84delFs
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HBB

NM_000518.5:p.G84delFs

Associated Papers

Non-Invasive Determination of the Paternal Inheritance in Pregnancies at Risk for β-Thalassaemia by Analyzing Cell-Free Fetal DNA Using Targeted Next-Generation Sequencing.

Byrou S et al.

International Journal of Molecular Sciences, 2025

39859286 (PubMed )
Supplement: ijms-26-00570-s001.zip › Supplementary.pdf

Active spread of β-thalassemia beyond the thalassemia belt: A study on a Russian population.

Shchemeleva E et al.

Clinical Genetics, 2025

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

Hassan MK et al.

Hemoglobin, 2025

Pathogenic variation underlying rare diseases in an Arab population: Implications for screening programs.

Jain R et al.

Genetics in Medicine Open, 2025

40893834 (PubMed )
Supplement: mmc1.xlsx › Supplementary_Table_3

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

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 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

β-Thalassemia Intermedia: Interaction of α-Globin Gene Triplication With β-thalassemia Heterozygous in Spain.

Ropero P et al.

Frontiers in Medicine, 2022

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

Farra C et al.

Hemoglobin, 2021

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

Diagnosis of Sickle Cell Disease and HBB Haplotyping in the Era of Personalized Medicine: Role of Next Generation Sequencing.

Adekile A et al.

Journal of Personalized Medicine, 2021

HBB mutations and HbA2 level: Escaping the carrier screening programs.

Sharifi A et al.

Clinical Case Reports, 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

β-Globin Gene Mutations in Pediatric Patients with β-Thalassemia in the Region of Çukurova, Turkey.

Guzelgul F et al.

Hemoglobin, 2020

Distribution of HBB Gene Mutations in the Kurdish Population of Ilam Province, West Iran.

Moradi K et al.

Hemoglobin, 2020

Two Rare Pathogenic HBB Variants in a Patient with β-Thalassemia Intermedia

Hançer VS et al.

Turkish Journal of Haematology : Official Journal of Turkish Society of Haematology, 2020

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 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

Codon 14 (+T) (HBB: c.44_45insT): a Rare β-Thalassemia Mutation Reported Only in Azerbaijan.

Aliyeva G et al.

Hemoglobin, 2018

Rare β-Globin Gene Mutations in Pakistan.

Hussain A et al.

Hemoglobin, 2017

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Turner A et al.

Bmc Medical Genetics, 2016

Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.

Divoka M et al.

Hemoglobin, 2016

Novel Βeta (β)-Thalassemia Mutation in Turkish Children.

Ulasli M et al.

Indian Journal of Hematology & Blood Transfusion : an Official Journal of Indian Society of Hematology and Blood Transfusion, 2015

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

Mehrabi M et al.

Hemoglobin, 2013

Molecular Diagnostics of β-Thalassemia.

Atanasovska B et al.

Balkan Journal of Medical Genetics : Bjmg, 2012

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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."