Publications:

Polygenic Contribution to Low-Density Lipoprotein Cholesterol Levels and Cardiovascular Risk in Monogenic Familial Hypercholesterolemia.

Circulation. Genomic And Precision Medicine

Trinder, Mark M; Paquette, Martine M; Cermakova, Lubomira L; Ban, Matthew R MR; Hegele, Robert A RA; Baass, Alexis A; Brunham, Liam R LR

Publication Date: 2020-10

Variant appearance in text: rs879255142

PubMed Link: 33079599

Variant Present in the following documents:

• hcg-13-515-s001.pdf

View BVdb publication page

Identification of pathogenic missense mutations using protein stability predictors.

Scientific Reports

Gerasimavicius, Lukas L; Liu, Xin X; Marsh, Joseph A JA

Publication Date: 2020-09-21

Variant appearance in text: LDLR: D707N

PubMed Link: 32958805

Variant Present in the following documents:

• 41598_2020_72404_MOESM2_ESM.xlsx, sheet 2

View BVdb publication page

Association of Monogenic vs Polygenic Hypercholesterolemia With Risk of Atherosclerotic Cardiovascular Disease.

Jama Cardiology

Trinder, Mark M; Francis, Gordon A GA; Brunham, Liam R LR

Publication Date: 2020-04-01

Variant appearance in text: rs879255142

PubMed Link: 32049305

Variant Present in the following documents:

• jamacardiol-5-390-s001.pdf

View BVdb publication page