Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.R476H
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PCSK9

NM_174936.4:p.R476H

Associated Papers

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

Pejaver V et al.

American Journal of Human Genetics, 2022

36413997 (PubMed )
Supplement: mmc2.xlsx › mmc2
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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."