Publications:

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Bmc Medical Genomics

Dron, Jacqueline S JS; Wang, Jian J; McIntyre, Adam D AD; Iacocca, Michael A MA; Robinson, John F JF; Ban, Matthew R MR; Cao, Henian H; Hegele, Robert A RA

Publication Date: 2020-02-10

Variant appearance in text: LPL: 629A>G; His210Arg

PubMed Link: 32041611

Variant Present in the following documents:

• 12920_2020_669_MOESM1_ESM.xlsx, sheet 4
• 12920_2020_669_MOESM1_ESM.xlsx, sheet 3

View BVdb publication page

Identification and functional characterization of a novel heterozygous missense variant in the LPL associated with recurrent hypertriglyceridemia-induced acute pancreatitis in pregnancy.

Molecular Genetics & Genomic Medicine

Shi, Xiao-Lei XL; Yang, Qi Q; Pu, Na N; Li, Xiao-Yao XY; Chen, Wei-Wei WW; Zhou, Jing J; Li, Gang G; Tong, Zhi-Hui ZH; Férec, Claude C; Cooper, David N DN; Chen, Jian-Min JM; Li, Wei-Qin WQ

Publication Date: 2020-03

Variant appearance in text: LPL: 629A>G; His210Arg

PubMed Link: 31962008

Variant Present in the following documents:

• Main text
• MGG3-8-e1048.pdf

View BVdb publication page