Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.Y36*
Back to variants list

HBB

NM_000518.5:p.Y36*

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

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

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

β0-Thalassemia Caused by a Novel Nonsense Mutation [HBB:c.199A > T].

Waye JS et al.

Hemoglobin, 2024

A large cohort of deletional high hemoglobin F determinants in Thailand: A molecular revisited and identification of a novel mutation.

Singha K et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2023

Effective screening of hemoglobin Constant Spring and hemoglobin Paksé with several forms of α- and β-thalassemia in an area with a high prevalence and heterogeneity of thalassemia using capillary electrophoresis.

Panyasai S et al.

Heliyon, 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

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

Hb Narges Lab, a Novel Hemoglobin Variant of the β-Globin Gene.

Hamid M et al.

Archives of Iranian Medicine, 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

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

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

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

Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.

Vasseur C et al.

British Journal of Haematology, 2017

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

Prenatal and newborn screening for hemoglobinopathies.

Hoppe CC

International Journal of Laboratory Hematology, 2013

A novel beta-globin mutation (HBB:c.107A>G; or codon 35 beta (A-->G)) at alpha-beta chain interfaces.

Kumar R et al.

Annals of Hematology, 2009

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."