Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P59R
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HBB

NM_000518.5:p.P59R

Associated Papers

Molecular epidemiology and hematological profiles of hemoglobin variants in southern Thailand.

Tepakhan W et al.

Scientific Reports, 2024

Burden of Mendelian disorders in a large Middle Eastern biobank.

Aamer W et al.

Genome Medicine, 2024

38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3

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

Broader spectrum of β-thalassemia mutations in Oman: regional distribution and comparison with neighboring countries.

Hassan SM et al.

Hemoglobin, 2015

Repository of mutations from Oman: The entry point to a national mutation database.

Rajab A et al.

F1000research, 2015

Reproducible Analysis of Post-Translational Modifications in Proteomes--Application to Human Mutations.

Holehouse AS et al.

Plos One, 2015

26659599 (PubMed )
Supplement: pone.0144692.s002.xlsx › suppTable_2.txt

Distinctive mutation spectrum of the HBB gene in an urban eastern Indian population.

Sahoo SS et al.

Hemoglobin, 2014

Self-catalytic DNA depurination underlies human β-globin gene mutations at codon 6 that cause anemias and thalassemias.

Alvarez-Dominguez JR et al.

The Journal of Biological Chemistry, 2013

Hb S-São Paulo: a new sickling hemoglobin with stable polymers and decreased oxygen affinity.

Jorge SE et al.

Archives of Biochemistry and Biophysics, 2012

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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."