Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P6A
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HBB

NM_000518.5:p.P6A

Associated Papers

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

Genetics of long-distance runners and road cyclists-A systematic review with meta-analysis.

Konopka MJ et al.

Scandinavian Journal of Medicine & Science in Sports, 2022

35839336 (PubMed )
Supplement: SMS-32-1414-s001.docx

Epidemiological and molecular study of hemoglobinopathies in Mauritanian patients.

Mahmoud T et al.

Molecular Genetics & Genomic Medicine, 2022

Risk Association, Linkage Disequilibrium, and Haplotype Analyses of β-Like Globin Gene Polymorphisms with Malaria Risk in the Sabah Population of Malaysian Borneo.

Chong ETJ et al.

Genes, 2022

De novo mutation rates at the single-mutation resolution in a human HBB gene region associated with adaptation and genetic disease.

Melamed D et al.

Genome Research, 2022

Curating the gnomAD database: Report of novel variants in the globin-coding genes and bioinformatics analysis.

Scheps KG et al.

Human Mutation, 2020

Total Hemoglobin Mass, Aerobic Capacity, and HBB Gene in Polish Road Cyclists.

Malczewska-Lenczowska J et al.

Journal of Strength and Conditioning Research, 2016

Development of a High-Resolution Melting Approach for Scanning Beta Globin Gene Point Mutations in the Greek and Other Mediterranean Populations.

Chassanidis C et al.

Plos One, 2016

NO ASSOCIATION BETWEEN tHbmass AND POLYMORPHISMS IN THE HBB GENE IN ENDURANCE ATHLETES.

Malczewska-Lenczowska J et al.

Biology of Sport, 2014

Beta globin frameworks in thalassemia major patients from north iran.

Akhavan-Niaki H et al.

Iranian Journal of Pediatrics, 2012

Prenatal screening for β-thalassemia major reveals new and rare mutations in the Pakistani population.

Moatter T et al.

International Journal of Hematology, 2012

Polymorphisms in the HBB gene relate to individual cardiorespiratory adaptation in response to endurance training.

He Z et al.

British Journal of Sports Medicine, 2006

Detection of rare beta-thalassemia mutations by denaturing gradient gel electrophoresis among Indians.

Gorakshakar AC et al.

Hemoglobin, 2004

Molecular, haematological and clinical studies of a silent beta-gene C-->G mutation at 6 bp 3' to the termination codon (+1480 C-->G) in twelve Greek families.

Maragoudaki E et al.

British Journal of Haematology, 1998

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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."