Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.R31Splc
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HBB

NM_000518.5:p.R31Splc

Associated Papers

Spectrum of Rare and Novel Indel Mutations Responsible for β Thalassemia in Eastern India.

Sinha S et al.

Indian Journal of Clinical Biochemistry : Ijcb, 2024

Splice Acceptor Mutation [HBB:c.93-2A > T] in a Patient with Hb S/β0-Thalassemia.

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

Effect of deletions in the α-globin gene on the phenotype severity of β-thalassemia.

Saha D et al.

Hemoglobin, 2022

36000542 (PubMed )
Supplement: supplement_1.zip › IHEM_2088381_SuppFigureCaptions.pdf

The Prevalence of HBB Mutations among the Transfusion-Dependent and Non Transfusion-Dependent Hb E/β-Thalassemia Children in a Tertiary Center of West Bengal, India.

Saha J et al.

Hemoglobin, 2021

Host genetic effects in pneumonia.

Chen HH et al.

American Journal of Human Genetics, 2021

33357513 (PubMed )
Supplement: mmc3.pdf

The Scope for Thalassemia Gene Therapy by Disruption of Aberrant Regulatory Elements.

Patsali P et al.

Journal of Clinical Medicine, 2019

31766235 (PubMed )
Supplement: jcm-08-01959-s001.pdf

Cross-Sectional Study for the Detection of Mutations in the Beta-Globin Gene Among Patients with Hemoglobinopathies in the Bengali Population.

Panja A et al.

Genetic Testing and Molecular Biomarkers, 2017

Compound heterozygous β(+) β(0) mutation of HBB gene leading to β-thalassemia major in a Gujarati family - A case study.

Chaudhary S et al.

Molecular Genetics and Metabolism Reports, 2016

Genetic Heterogeneity of Beta Globin Mutations among Asian-Indians and Importance in Genetic Counselling and Diagnosis.

Kumar R et al.

Mediterranean Journal of Hematology and Infectious Diseases, 2013

Molecular basis of β-thalassemia in Karnataka, India.

Kulkarni GD et al.

Genetic Testing and Molecular Biomarkers, 2012

Nonsense mutation of β-globin gene at codon 82 (AAG→TAG) or HBB:C247 A→T with polymorphism: cause of thalassemia intermedia?

Kumar R et al.

International Journal of Laboratory Hematology, 2011

Clinical and haematological features in a compound heterozygote (HBB:c.92 + 5G > C/HBB:c.93-2A > C) case of thalassaemia major.

Agarwal S et al.

International Journal of Laboratory Hematology, 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."