Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.V140I
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PCSK9

NM_174936.4:p.V140I

Associated Papers

Genetics of Familial Combined Hyperlipidemia (FCHL) Disorder: An Update.

Taghizadeh E et al.

Biochemical Genetics, 2022

The Spectrum of Low-Density Lipoprotein Receptor Mutations in a Large Turkish Cohort of Patients with Familial Hypercholesterolemia.

Turkyilmaz A et al.

Metabolic Syndrome and Related Disorders, 2021

Patients With LDLR and PCSK9 Gene Variants Experienced Higher Incidence of Cardiovascular Outcomes in Heterozygous Familial Hypercholesterolemia.

Doi T et al.

Journal of the American Heart Association, 2021

33533259 (PubMed )
Supplement: JAH3-10-e018263-s001.pdf

Population specific genetic heterogeneity of familial hypercholesterolemia in South Africa.

Smyth N et al.

Current Opinion in Lipidology, 2018

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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."