Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S50P
Back to variants list

HBB

NM_000518.5:p.S50P

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-HBB

Molecular epidemiology, pathogenicity, and structural analysis of haemoglobin variants in the Yunnan province population of Southwestern China.

Zhang J et al.

Scientific Reports, 2019

The genetic heterogeneity of β-globin gene defects in Sicily reflects the historic population migrations of the island.

Giambona A et al.

Blood Cells, Molecules & Diseases, 2011

Molecular analysis of β-thalassemia patients: first identification of mutations HBB:c.93-2A>G and HBB:c.114G>A in Brazil.

Fernandes AC et al.

Hemoglobin, 2011

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."