Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E91*
Back to variants list

HBB

NM_000518.5:p.E91*

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

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

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

Waye JS et al.

Hemoglobin, 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

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

Hamid M et al.

Archives of Iranian Medicine, 2022

The Spectrum of β-Thalassemia Mutations in Siirt Province, Southeastern Turkey.

Yılmaz S

Hemoglobin, 2019

Identification of a novel pre-terminating mutation in human HBB gene as a cause of β0-thalassemia phenotype.

Xu L et al.

International Journal of Clinical and Experimental Pathology, 2019

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

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

Teh LK et al.

Journal of Human Genetics, 2014

The spectrum of β-thalassemia mutations in Hatay, Turkey: reporting three new mutations.

Aldemir O et al.

Hemoglobin, 2014

Comprehensive and efficient HBB mutation analysis for detection of beta-hemoglobinopathies in a pan-ethnic population.

Chan OT et al.

American Journal of Clinical Pathology, 2010

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."