Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.E122*
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HBB

NM_000518.5:p.E122*

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

Dominant Beta Thalassemia: A Very Rare Cause of Thalassemia in a Mediterranean Country.

Coskun C et al.

Hemoglobin, 2024

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

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

Hamid M et al.

Archives of Iranian Medicine, 2022

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

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

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 characterization of α- and β-thalassemia in the Yulin region of Southern China.

He S et al.

Gene, 2018

Haematological and electrophoretic characterisation of β-thalassaemia in Yunnan province of Southwestern China.

Zhang J et al.

Bmj Open, 2017

Molecular Characterization of β-Thalassemia in the Czech and Slovak Populations: Mediterranean, Asian and Unique Mutations.

Divoka M et al.

Hemoglobin, 2016

Genetic heterogeneity of the β-globin gene in various geographic populations of Yunnan in southwestern China.

Zhang J et al.

Plos One, 2015

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

Teh LK et al.

Journal of Human Genetics, 2014

[Hemoglobin in thalassemia; minimal thalassemia and Mediterranean anemia].

ROCHE J et al.

Revue D'hematologie, 1953

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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."