Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.N20S
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HBB

NM_000518.5:p.N20S

Associated Papers

Clinical and hematological characteristics of beta-plus thalassemia and uncommon beta-chain hemoglobin variants in Northern Thailand.

Rukwong P et al.

Annals of Medicine, 2025

Genetic polymorphism of novel SNP rs5006884 in OR51B6 and SNP rs4499252 in AHSP among transfusion-dependent and non-transfusion-dependent β-thalassemia/Hb E patients in Thailand: a multivariate analysis of clinical and genetic polymorphism.

Mahabhol C et al.

Annals of Hematology, 2025

Rapid and Visual Molecular Detection of High Hb F Determinants; HPFH6, Asian Indian inv-del (Aγδβ)0-Thalassemia, and Thai del-inv-ins (Aγδβ)0-Thalassemia Using LAMP Colorimetric Phenol Red Assays.

Jomoui W et al.

Hemoglobin, 2025

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

Rapid Identification of β-Thalassemia, Hb E, and High Hb F Determinants Using a High-Resolution Melting Analysis: Application in Prenatal Diagnosis in Southern Thailand.

Tepakhan W et al.

Hemoglobin, 2025

Prediction the Occurrence of Thalassemia With Hematological Phenotype by Diagnosis of Abnormal HbA1c.

Wan Y et al.

Journal of Clinical Laboratory Analysis, 2024

39317177 (PubMed )
Supplement: JCLA-38-e25104-s001.xlsx › Mutations

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

Identification of a novel and rare α0 -thalassemia 27.0 kb deletion with 9 bp insertion (Lamphun deletion; --LAMPHUN ) in a Thai family.

Khamphikham P et al.

International Journal of Laboratory Hematology, 2024

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

Bazazzadegan N et al.

Hemoglobin, 2023

Application of Targeted Next-Generation Sequencing for the Investigation of Thalassemia in a Developing Country: A Single Center Experience.

Zulkeflee RH et al.

Diagnostics (basel, Switzerland), 2023

α- and β-Globin Gene Mutations in Individuals with Hemoglobinopathies in the Chattogram and Sylhet Regions of Bangladesh.

Kabir T et al.

Hemoglobin, 2023

The gene spectrum of thalassemia in Yangjiang of western Guangdong Province.

Liang HF et al.

Frontiers in Genetics, 2023

Molecular understanding of unusual HbE-β+-thalassemia with Hb phenotype similar to HbE heterozygote: simple and rapid differentiation using HbE levels.

Jomoui W et al.

Annals of Medicine, 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

Genotype-Phenotype Study of β-Thalassemia Patients in Sabah.

Suali L et al.

Hemoglobin, 2022

Are transient protein-protein interactions more dispensable?

Ghadie MA et al.

Plos Computational Biology, 2022

35404956 (PubMed )
Supplement: pcbi.1010013.s002.xlsx › _B__Y2H-SI_disMut_edgotypes

Thalassemia in Malaysia.

Alwi ZB et al.

Hemoglobin, 2022

Thalassemia and erythroid transcription factor KLF1 mutations associated with borderline hemoglobin A2 in the Thai population.

Srivorakun H et al.

Archives of Medical Science : Ams, 2022

Molecular and hematological studies in a cohort of beta zero South East Asia deletion (β°-thal SEA) from Malaysian perspective.

Yasin NM et al.

Frontiers in Pediatrics, 2022

Genetics background of β-thalassemia (3.5 kb deletion) in Southern Thailand: Haplotype analysis using novel reverse dot blot hybridization.

Tepakhan W et al.

Annals of Human Genetics, 2021

Molecular Spectrum of β-Thalassemia Mutations in Central to Eastern Thailand.

Panichchob P et al.

Hemoglobin, 2021

Molecular Characterization Analysis of Thalassemia and Hemoglobinopathy in Quanzhou, Southeast China: A Large-Scale Retrospective Study.

Zhuang J et al.

Frontiers in Genetics, 2021

Mutation Edgotype Drives Fitness Effect in Human.

Ghadie M et al.

Frontiers in Bioinformatics, 2021

36303776 (PubMed )
Supplement: Table2.XLSX › _B__Y2H-SI_pathMt_edgotype

Molecular Characterization and Hematological Aspects of Hb E-Myanmar [β26(B8)Glu→Lys and β65(E9)Lys→Asn, HBB: c.[79G>A;198G>C]): A Novel β-Thalassemic Hemoglobin Variant.

Satthakarn S et al.

Hemoglobin, 2020

Simultaneous Characterization of Deletional and Nondeletional Globin Gene Mutations by Multiplex Real-Time-Polymerase Chain Reaction and High-Resolution Melting Curve Analysis.

Nuinoon M et al.

Hemoglobin, 2020

Molecular Characterization of β- and α-Globin Gene Mutations in Individuals with Borderline Hb A2 Levels.

Satthakarn S et al.

Hemoglobin, 2020

Genotype-Phenotype Correlation of β-Thalassemia in Malaysian Population: Toward Effective Genetic Counseling.

Abdullah UYH et al.

Hemoglobin, 2020

Shine & Lal index as a predictor for early detection of β-thalassemia carriers in a limited resource area in Bandung, Indonesia.

Maskoen AM et al.

Bmc Medical Genetics, 2019

Estimating dispensable content in the human interactome.

Ghadie M et al.

Nature Communications, 2019

31324802 (PubMed )
Supplement: 41467_2019_11180_MOESM6_ESM.xlsx › _D__IntAct-SI_disease_mut

Prenatal diagnosis of a case with SEA-HPFH deletion thalassemia with whole HBB gene deletion.

Ly Thi Thanh H et al.

Taiwanese Journal of Obstetrics & Gynecology, 2018

High resolution melting curve analysis targeting the HBB gene mutational hot-spot offers a reliable screening approach for all common as well as most of the rare beta-globin gene mutations in Bangladesh.

Islam MT et al.

Bmc Genetics, 2018

HUMA: A platform for the analysis of genetic variation in humans.

Brown DK et al.

Human Mutation, 2018

Genotype-phenotype correlation among beta-thalassemia and beta-thalassemia/HbE disease in Thai children: predictable clinical spectrum using genotypic analysis.

Traivaree C et al.

Journal of Blood Medicine, 2018

Rapid Targeted Next-Generation Sequencing Platform for Molecular Screening and Clinical Genotyping in Subjects with Hemoglobinopathies.

Shang X et al.

Ebiomedicine, 2017

28865746 (PubMed )
Supplement: mmc1.docx

Diverse hematological phenotypes of β-thalassemia carriers.

Luo HY et al.

Annals of the New York Academy of Sciences, 2016

The use of Taqman genotyping assays for rapid confirmation of β-thalassaemia mutations in the Malays: accurate diagnosis with low DNA concentrations.

Teh LK et al.

International Journal of Laboratory Hematology, 2015

Transfusion-dependent thalassemia in Northern Sarawak: a molecular study to identify different genotypes in the multi-ethnic groups and the importance of genomic sequencing in unstudied populations.

Tan JA et al.

Public Health Genomics, 2015

Elevated Hb A₂ Levels in a Patient with a Compound Heterozygosity for the (β⁺) -31 (A > G) and (β⁰) Codon 17 (A > T) Mutations Together with a Single α-Globin Gene.

Panyasai S et al.

Hemoglobin, 2015

Molecular Scanning of β-Thalassemia in the Southern Region of Central Java, Indonesia; a Step Towards a Local Prevention Program.

Rujito L et al.

Hemoglobin, 2015

Molecular basis of transfusion dependent beta-thalassemia major patients in Sabah.

Teh LK et al.

Journal of Human Genetics, 2014

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

Molecular analysis of beta-globin gene mutations among Thai beta-thalassemia children: results from a single center study.

Boonyawat B et al.

The Application of Clinical Genetics, 2014

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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."