Varaico: Literature-Extracted Genetic Variants

Gene:HBB
Variant:p.S50C
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HBB

NM_000518.5:p.S50C

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

The functional landscape of the human phosphoproteome.

Ochoa D et al.

Nature Biotechnology, 2020

31819260 (PubMed )
Supplement: EMS84831-supplement-Table_S5.xlsx › clinvar_data

Effects of hemoglobin variants on hemoglobin a1c values measured using a high-performance liquid chromatography method.

Lorenzo-Medina M et al.

Journal of Diabetes Science and Technology, 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."