Varaico: Literature-Extracted Genetic Variants

Gene:PCSK9
Variant:p.N652D
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PCSK9

NM_174936.4:p.N652D

Associated Papers

Is the combination of Myelodysplastic syndromes and pulmonary fibrosis accidental or inevitable?

He Y et al.

Multidisciplinary Respiratory Medicine, 2025

Prevalence and Clinical Characteristics of Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome according to the Current Japanese Guidelines: Insight from the EXPLORE-J study.

Takeji Y et al.

Journal of Atherosclerosis and Thrombosis, 2025

Common and Rare PCSK9 Variants Associated with Low-Density Lipoprotein Cholesterol Levels and the Risk of Diabetes Mellitus: A Mendelian Randomization Study.

Hsu LA et al.

International Journal of Molecular Sciences, 2022

36142332 (PubMed )
Supplement: ijms-23-10418-s001.zip › Supplementary_20220829_final.pdf

Familial Hypercholesterolemia in Patients with Acute Coronary Syndrome: Genetic Insights from EXPLORE-J.

Harada-Shiba M et al.

Journal of Atherosclerosis and Thrombosis, 2022

Effects of familial hypercholesterolemia-associated genes on the phenotype of premature myocardial infarction.

Lee C et al.

Lipids in Health and Disease, 2019

Application of expanded genetic analysis in the diagnosis of familial hypercholesterolemia in patients with very early-onset coronary artery disease.

Cao YX et al.

Journal of Translational Medicine, 2018

30526649 (PubMed )
Supplement: 12967_2018_1737_MOESM1_ESM.pdf

Stepwise processing analyses of the single-turnover PCSK9 protease reveal its substrate sequence specificity and link clinical genotype to lipid phenotype.

Chorba JS et al.

The Journal of Biological Chemistry, 2018

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