Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.L15_L16insL
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PCSK9

NM_174936.4:p.L15_L16insL

Associated Papers

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L et al.

Atherosclerosis, 2007

Genetic causes of familial hypercholesterolaemia in patients in the UK: relation to plasma lipid levels and coronary heart disease risk.

Humphries SE et al.

Journal of Medical Genetics, 2006

Mutations in the PCSK9 gene in Norwegian subjects with autosomal dominant hypercholesterolemia.

Leren TP

Clinical Genetics, 2004

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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."