Publications:

Novel Presentation of Homozygous Familial Hypercholesterolemia With Homozygous Variants in Both LDLR and APOB Genes.

Jacc. Case Reports

Derenbecker, Robert R; Kapoor, Karan K; Brown, Emily E; Leucker, Thorsten T; Jones, Steven R SR; Lokhandwala, Parvez M PM; Byrne, Kathleen H KH; Martin, Seth S SS

Publication Date: 2019-10

Variant appearance in text: APOB: 5822C>T; Thr1941Ile

PubMed Link: 34316823

Variant Present in the following documents:

• Main text
• main.pdf

View BVdb publication page

Global genetic diversity of human apolipoproteins and effects on cardiovascular disease risk.

Journal Of Lipid Research

Zhou, Yitian Y; Mägi, Reedik R; Milani, Lili L; Lauschke, Volker M VM

Publication Date: 2018-10

Variant appearance in text: rs779869008

PubMed Link: 30076208

Variant Present in the following documents:

• 10.1194_P086710_jlr.P086710-4.xlsx, sheet 1

View BVdb publication page