Publications:

Prevalence and prognosis of molecularly defined familial hypercholesterolemia in patients with acute coronary syndrome.

Frontiers In Cardiovascular Medicine

Wang, Cheng C; Yu, Puliang P; Hu, Lizhi L; Liang, Minglu M; Mao, Yi Y; Zeng, Qiutang Q; Wang, Xiang X; Huang, Kai K; Yan, Jin J; Xie, Li L; Zhang, Fengxiao F; Zhu, Feng F

Publication Date: 2022

Variant appearance in text: APOB: A448T

PubMed Link: 35966514

Variant Present in the following documents:

View BVdb publication page

Genome sequencing reveals the role of rare genomic variants in Chinese patients with symptomatic intracranial atherosclerotic disease.

Stroke And Vascular Neurology

Shi, Mengmeng M; Leng, Xinyi X; Li, Ying Y; Chen, Zihan Z; Cao, Ye Y; Chung, Tiffany T; Ip, Bonaventure Ym BY; Ip, Vincent Hl VH; Soo, Yannie Oy YO; Fan, Florence Sy FS; Ma, Sze Ho SH; Ma, Karen K; Chan, Anne Y Y AYY; Au, Lisa Wc LW; Leung, Howan H; Lau, Alexander Y AY; Mok, Vincent Ct VC; Choy, Kwong Wai KW; Dong, Zirui Z; Leung, Thomas W TW

Publication Date: 2022-06

Variant appearance in text: APOB: A448T

PubMed Link: 34880113

Variant Present in the following documents:

• svn-2021-001157supp001.pdf

View BVdb publication page

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

Journal Of Translational Medicine

Cao, Ye-Xuan YX; Wu, Na-Qiong NQ; Sun, Di D; Liu, Hui-Hui HH; Jin, Jing-Lu JL; Li, Sha S; Guo, Yuan-Lin YL; Zhu, Cheng-Gang CG; Gao, Ying Y; Dong, Qiu-Ting QT; Liu, Geng G; Dong, Qian Q; Li, Jian-Jun JJ

Publication Date: 2018-12-10

Variant appearance in text: APOB: 1342G>A; Ala448Thr

PubMed Link: 30526649

Variant Present in the following documents:

• 12967_2018_1737_MOESM1_ESM.pdf

View BVdb publication page

Rare and common variants of APOB and PCSK9 in Korean patients with extremely low low-density lipoprotein-cholesterol levels.

Plos One

Lee, Chan Joo CJ; Lee, Yunbeom Y; Park, Sungha S; Kang, Seok-Min SM; Jang, Yangsoo Y; Lee, Ji Hyun JH; Lee, Sang-Hak SH

Publication Date: 2017

Variant appearance in text: APOB: A448T; rs752032737

PubMed Link: 29036232

Variant Present in the following documents:

• Main text
• pone.0186446.pdf

View BVdb publication page

A Landscape of Pharmacogenomic Interactions in Cancer.

Cell

Iorio, Francesco F; Knijnenburg, Theo A TA; Vis, Daniel J DJ; Bignell, Graham R GR; Menden, Michael P MP; Schubert, Michael M; Aben, Nanne N; Gonçalves, Emanuel E; Barthorpe, Syd S; Lightfoot, Howard H; Cokelaer, Thomas T; Greninger, Patricia P; van Dyk, Ewald E; Chang, Han H; de Silva, Heshani H; Heyn, Holger H; Deng, Xianming X; Egan, Regina K RK; Liu, Qingsong Q; Mironenko, Tatiana T; Mitropoulos, Xeni X; Richardson, Laura L; Wang, Jinhua J; Zhang, Tinghu T; Moran, Sebastian S; Sayols, Sergi S; Soleimani, Maryam M; Tamborero, David D; Lopez-Bigas, Nuria N; Ross-Macdonald, Petra P; Esteller, Manel M; Gray, Nathanael S NS; Haber, Daniel A DA; Stratton, Michael R MR; Benes, Cyril H CH; Wessels, Lodewyk F A LFA; Saez-Rodriguez, Julio J; McDermott, Ultan U; Garnett, Mathew J MJ

Publication Date: 2016-07-28

Variant appearance in text: APOB: 1342G>A; A448T

PubMed Link: 27397505

Variant Present in the following documents:

• mmc3.xlsx, sheet 3

View BVdb publication page