Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.L43_A44insCTG
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PCSK9

NM_174936.4:p.L43_A44insCTG

Associated Papers

Meta-GWAS of PCSK9 levels detects two novel loci at APOB and TM6SF2.

Pott J et al.

Human Molecular Genetics, 2022

PCSK9 Variants in Familial Hypercholesterolemia: A Comprehensive Synopsis.

Guo Q et al.

Frontiers in Genetics, 2020

Loss-of-Function PCSK9 Mutations Are Not Associated With Alzheimer Disease.

Paquette M et al.

Journal of Geriatric Psychiatry and Neurology, 2018

The Proprotein Convertases in Hypercholesterolemia and Cardiovascular Diseases: Emphasis on Proprotein Convertase Subtilisin/Kexin 9.

Seidah NG et al.

Pharmacological Reviews, 2017

PCSK9 inhibition in LDL cholesterol reduction: genetics and therapeutic implications of very low plasma lipoprotein levels.

Marais AD et al.

Pharmacology & Therapeutics, 2015

Regional distribution and metabolic effect of PCSK9 insLEU and R46L gene mutations and apoE genotype.

Awan Z et al.

The Canadian Journal of Cardiology, 2013

Novel loss-of-function PCSK9 variant is associated with low plasma LDL cholesterol in a French-Canadian family and with impaired processing and secretion in cell culture.

Mayne J et al.

Clinical Chemistry, 2011

Molecular analysis and intestinal expression of SAR1 genes and proteins in Anderson's disease (Chylomicron retention disease).

Georges A et al.

Orphanet Journal of Rare Diseases, 2011

The molecular basis of familial hypercholesterolemia in Lebanon: spectrum of LDLR mutations and role of PCSK9 as a modifier gene.

Abifadel M et al.

Human Mutation, 2009

Mutations and polymorphisms in the proprotein convertase subtilisin kexin 9 (PCSK9) gene in cholesterol metabolism and disease.

Abifadel M et al.

Human Mutation, 2009

A PCSK9 variant and familial combined hyperlipidaemia.

Abifadel M et al.

Journal of Medical Genetics, 2008

Genetic heterogeneity of autosomal dominant hypercholesterolemia.

Varret M et al.

Clinical Genetics, 2008

[After the LDL receptor and apolipoprotein B, autosomal dominant hypercholesterolemia reveals its third protagonist: PCSK9].

Abifadel M et al.

Annales D'endocrinologie, 2007

Unravelling the functional significance of PCSK9.

Lambert G

Current Opinion in Lipidology, 2007

Proprotein convertase subtilisin/kexin type 9, its variants and regulation of low-density lipoprotein cholesterol.

Wierzbicki AS

Current Opinion in Lipidology, 2007

The c.43_44insCTG variation in PCSK9 is associated with low plasma LDL-cholesterol in a Caucasian population.

Yue P et al.

Human Mutation, 2006

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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."