Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.K96insFs
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HBB

NM_000518.5:p.K96insFs

Associated Papers

Subtype Distribution and Mutation Spectrum of Thalassemia in Children Under 10 Years in Northern Vietnam.

Nguyen HT et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2026

Prevention and control of thalassemia in Guangdong Province, Southern China: insights from an 11-year retrospective study.

Qin D et al.

Annals of Medicine, 2025

A common TBP-binding site mutation elevates fetal hemoglobin levels by competitive globin switching change in β-thalassemia.

Song M et al.

Blood Advances, 2025

The 1357 bp deletion in β-thalassemia: molecular profiling and hematological characterization in a Guangxi cohort.

Li Y et al.

Molecular Biology Reports, 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

Development and validation of mPCR-CEFA for detecting multiple deletion and non-deletion thalassemia genotypes.

Xu J et al.

Frontiers in Genetics, 2025

40697540 (PubMed )
Supplement: Table1.xlsx › _Supplementary_Table_S1

Exploring a novel model for newborn genetic screening in Ningxia, northern China: A retrospective observational study.

Mao X et al.

Medicine, 2024

39969324 (PubMed )
Supplement: medi-103-e41064-s001.xlsx › S2

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

Comprehensive analysis of thalassemia alleles (CATSA) based on third-generation sequencing is a comprehensive and accurate approach for neonatal thalassemia screening.

Long J et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2024

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

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

Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.

Lam TT et al.

Hemoglobin, 2022

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Application of a next-generation sequencing (NGS) panel in newborn screening efficiently identifies inborn disorders of neonates.

Huang X et al.

Orphanet Journal of Rare Diseases, 2022

35193651 (PubMed )
Supplement: 13023_2022_2231_MOESM2_ESM.xlsx › InputVariantsForDesign

Thalassemia in Viet Nam.

Bach KQ et al.

Hemoglobin, 2022

Predictive SNPs for β0-thalassemia/HbE disease severity.

Munkongdee T et al.

Scientific Reports, 2021

33990643 (PubMed )
Supplement: 41598_2021_89641_MOESM1_ESM.pdf

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

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

Analysis of Common β-Thalassemia Mutations in North Vietnam.

Vo LTT et al.

Hemoglobin, 2018

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

Shang X et al.

Ebiomedicine, 2017

A Genetic Variant Ameliorates β-Thalassemia Severity by Epigenetic-Mediated Elevation of Human Fetal Hemoglobin Expression.

Chen D et al.

American Journal of Human Genetics, 2017

Molecular Characterization of β-Thalassemia Mutations in Central Vietnam.

Doro MG et al.

Hemoglobin, 2017

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

Teh LK et al.

Journal of Human 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."