Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A62D
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PCSK9

NM_174936.4:p.A62D

Associated Papers

Unraveling the genetic background of individuals with a clinical familial hypercholesterolemia phenotype.

Medeiros AM et al.

Journal of Lipid Research, 2024

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

Characterization of the first PCSK9 gain of function homozygote.

Alves AC et al.

Journal of the American College of Cardiology, 2015

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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."