Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E8*
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HBB

NM_000518.5:p.E8*

Associated Papers

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

Rare Pathogenic β0-Thalassemia Mutation, Codon 7 (GAG>TAG) (HBB: c.22G>T). Report of the First Two Cases in Albanian Immigrants of Northern Greece.

Zarkada E et al.

Hemoglobin, 2022

The Spectrum of β-Thalassemia Mutations in the Population Migration in Lebanon: A 6-Year Retrospective Study.

Farra C et al.

Hemoglobin, 2021

Presentation of two new mutations in the 3'untranslated region of the β-globin gene and evaluating the molecular spectrum of thalassemia mutations in the Mediterranean region of Turkey.

Arpaci A et al.

Annals of Hematology, 2021

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Turner A et al.

Bmc Medical Genetics, 2016

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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."