Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.S636R
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PCSK9

NM_174936.4:p.S636R

Associated Papers

Targeting PCSK9 to tackle cardiovascular disease.

Hummelgaard S et al.

Pharmacology & Therapeutics, 2023

Genetic spectrum of familial hypercholesterolemia and correlations with clinical expression: Implications for diagnosis improvement.

Di Taranto MD et al.

Clinical Genetics, 2021

Protective lipid-lowering variants in healthy older individuals without coronary heart disease.

Lacaze P et al.

Open Heart, 2021

34341098 (PubMed )
Supplement: openhrt-2021-001710supp001.xlsx › RPVs_literature

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

Xia XD et al.

Frontiers in Cardiovascular Medicine, 2021

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Identification and in vitro characterization of two new PCSK9 Gain of Function variants found in patients with Familial Hypercholesterolemia.

Di Taranto MD et al.

Scientific Reports, 2017

Characterisation of de novo mutations in the C-terminal domain of proprotein convertase subtilisin/kexin type 9.

Geschwindner S et al.

Protein Engineering, Design & Selection : Peds, 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."