Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.Y36delFs
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HBB

NM_000518.5:p.Y36delFs

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

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

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

Predictive SNPs for β0-thalassemia/HbE disease severity.

Munkongdee T et al.

Scientific Reports, 2021

33990643 (PubMed )
Supplement: 41598_2021_89641_MOESM1_ESM.pdf

Detection of HBB:c.92+5G>C and HBB:c.108delC mutations in β-thalassemia carriers using high-resolution melting analysis.

Hidayati NI et al.

Molecular Biology Reports, 2020

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 spectrum of β-thalassemia in Fujian Province, Southeastern China.

Huang H et al.

Hemoglobin, 2013

Molecular study and genotype/phenotype correlation of β Thalassemia in Malaysia.

Sivalingam M et al.

International Journal of Laboratory Hematology, 2012

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

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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."