Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.Q128R
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HBB

NM_000518.5:p.Q128R

Associated Papers

miRNA-Mediated Regulation of γ-Globin to β-Globin Switching: Therapeutic Potential in β-Hemoglobinopathies.

Alotaibi D et al.

International Journal of Molecular Sciences, 2026

Hemoglobin Dieppe (HBB:c. 383A > G): A Rare Dominant β-Thalassemia in an Iraqi Kurdish Family.

Osman TJ et al.

Hemoglobin, 2025

Global distribution of β-thalassemia mutations: An update.

Rao E et al.

Gene, 2024

Utilization of multiple genetic methods for prenatal diagnosis of rare thalassemia variants.

Jiang F et al.

Frontiers in Genetics, 2023

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

Dominant β-Thalassemia Phenotype Caused by Hb Dieppe (HBB: c.383A>G): Another Case Report.

Chen HQ et al.

Hemoglobin, 2021

Molecular basis and diagnosis of thalassemia.

Lee JS et al.

Blood Research, 2021

Molecular Characterization and Disease-Related Morbidities of β-Thalassemia Patients from the Northeastern Part of Iraq.

Amin S et al.

International Journal of General Medicine, 2020

Red blood cells free α-haemoglobin pool: a biomarker to monitor the β-thalassemia intermedia variability. The ALPHAPOOL study.

Vasseur C et al.

British Journal of Haematology, 2017

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

Zhang J et al.

Bmj Open, 2017

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

Zhang J et al.

Plos One, 2015

Novel dominant β-thalassemia: Hb Boston-Kuwait [codon 139/140(+T)].

Croteau SE et al.

Pediatric Blood & Cancer, 2013

A De Novo Heterozygous Variant (HBB: c.379delG, p.Val127Cysfs*32) Associated with a Mild β-Thalassemia Intermedia Phenotype in a Turkish Child.

Gürlek-Gökçebay D et al.

Hemoglobin, 0

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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."