Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.A475V
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PCSK9

NM_174936.4:p.A475V

Associated Papers

Genome-wide rare variant analysis for thousands of phenotypes in over 70,000 exomes from two cohorts.

Cirulli ET et al.

Nature Communications, 2020

31992710 (PubMed )
Supplement: 41467_2020_14288_MOESM1_ESM.pdf

Molecular spectrum of autosomal dominant hypercholesterolemia in France.

Marduel M et al.

Human Mutation, 2010

Genetic and polygenic contributions to familial hypercholesterolemia in Thailand: Implications for diagnosis and lipid management.

Pasookhush P et al.

Journal of Clinical Lipidology, 0

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