Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.P59H
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HBB

NM_000518.5:p.P59H

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

Rapid detection of pathological mutations and deletions of the haemoglobin beta gene (HBB) by High Resolution Melting (HRM) analysis and Gene Ratio Analysis Copy Enumeration PCR (GRACE-PCR).

Turner A et al.

Bmc Medical Genetics, 2016

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

Detection of sickle cell hemoglobin in Haiti by genotyping and hemoglobin solubility tests.

Carter TE et al.

The American Journal of Tropical Medicine and Hygiene, 2014

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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."