Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.F42delFs
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HBB

NM_000518.5:p.F42delFs

Associated Papers

High efficiency of thalassemia prevention by next-generation sequencing: a real-world cohort study in two centers of China.

Zhang J et al.

Journal of Genetics and Genomics = Yi Chuan Xue Bao, 2026

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

The Validation of Whole β-Globin Gene Sequencing for Detecting β-Thalassemia Mutations Found in Thailand Using Next-Generation Sequencing (NGS).

Karnpean R et al.

Hemoglobin, 2024

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

Tepakhan W et al.

Scientific Reports, 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

Assessment of iron overload in a cohort of Sri Lankan patients with transfusion dependent beta thalassaemia and its correlation with pathogenic variants in HBB, HFE, SLC40A1, and TFR2 genes.

Dissanayake R et al.

Bmc Pediatrics, 2022

Clinical Severity of β-Thalassemia Pediatric Patients in Myanmar.

Khaing AA et al.

Hemoglobin, 2022

Multiplex Quantitative Real-Time Polymerase Chain Reaction and High-Resolution Melting Analysis for Identification of a Couple At-Risk of Having a Newborn with Severe Thalassemia.

Ruengdit C et al.

Hemoglobin, 2021

Spectrum of β-Thalassemia Mutations in Some Areas of Guangxi Zhuang Autonomous Region of Southern China: A Study on a Pediatric Population Aged 0-15 Years.

Huang LF et al.

Hemoglobin, 2021

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

Panichchob P et al.

Hemoglobin, 2021

Nationwide carrier detection and molecular characterization of β-thalassemia and hemoglobin E variants in Bangladeshi population.

Noor FA et al.

Orphanet Journal of Rare Diseases, 2020

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

Microdeletions and microinsertions causing human genetic disease: common mechanisms of mutagenesis and the role of local DNA sequence complexity.

Ball EV et al.

Human Mutation, 2005

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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."