Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.E498K
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PCSK9

NM_174936.4:p.E498K

Associated Papers

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Regulation of PCSK9 Expression and Function: Mechanisms and Therapeutic Implications.

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

Proprotein Convertase Subtilisin/Kexin-Type 9 and Lipid Metabolism.

Guo S et al.

Advances in Experimental Medicine and Biology, 2020

Loss- and gain-of-function PCSK9 variants: cleavage specificity, dominant negative effects, and low density lipoprotein receptor (LDLR) degradation.

Benjannet S et al.

The Journal of Biological Chemistry, 2012

Familial hypobetalipoproteinemia in a hospital survey: genetics, metabolism and non-alcoholic fatty liver disease.

Gutiérrez-Cirlos C et al.

Annals of Hepatology, 0

[Familial homozygous hypercholesterolemia due to the c2271delT mutation in the LDL receptor gene, detected exclusively in Mexicans].

Martínez L et al.

Gaceta Medica De Mexico, 0

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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."