Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E27*
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HBB

NM_000518.5:p.E27*

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

Combined Gap-Polymerase Chain Reaction and Targeted Next-Generation Sequencing Improve α- and β-Thalassemia Carrier Screening in Pregnant Women in Vietnam.

Lam TT et al.

Hemoglobin, 2022

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

Hamid M et al.

Archives of Iranian Medicine, 2022

Spectrum of HBB gene mutations among 696 β-thalassemia patients and carriers in Southern Vietnam.

Xinh PT et al.

Molecular Biology Reports, 2022

Thalassemia in Viet Nam.

Bach KQ 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

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

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

Prevalence of globin gene modifiers encountered in fetuses during antenatal diagnosis of hemoglobinopathies.

Mehta P et al.

International Journal of Laboratory Hematology, 2020

Gene spectrum analysis of thalassemia for people residing in northern China.

Yang Z et al.

Bmc Medical Genetics, 2019

The phenotypic and molecular diversity of hemoglobinopathies in India: A review of 15 years at a referral center.

Nadkarni AH et al.

International Journal of Laboratory Hematology, 2019

Molecular Characterization of β-Thalassemia Mutations in Central Vietnam.

Doro MG et al.

Hemoglobin, 2017

Oncogenic NRF2 mutations in squamous cell carcinomas of oesophagus and skin.

Kim YR et al.

The Journal of Pathology, 2010

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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."