Publications:

Calibration of computational tools for missense variant pathogenicity classification and ClinGen recommendations for PP3/BP4 criteria.

American Journal Of Human Genetics

Pejaver, Vikas V; Byrne, Alicia B AB; Feng, Bing-Jian BJ; Pagel, Kymberleigh A KA; Mooney, Sean D SD; Karchin, Rachel R; O'Donnell-Luria, Anne A; Harrison, Steven M SM; Tavtigian, Sean V SV; Greenblatt, Marc S MS; Biesecker, Leslie G LG; Radivojac, Predrag P; Brenner, Steven E SE; ,

Publication Date: 2022-12-01

Variant appearance in text: APOB: D2065G; rs764440678

PubMed Link: 36413997

Variant Present in the following documents:

• mmc3.xlsx, sheet 1

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Single-cell transcriptomic analysis suggests two molecularly subtypes of intrahepatic cholangiocarcinoma.

Nature Communications

Song, Guohe G; Shi, Yang Y; Meng, Lu L; Ma, Jiaqiang J; Huang, Siyuan S; Zhang, Juan J; Wu, Yingcheng Y; Li, Jiaxin J; Lin, Youpei Y; Yang, Shuaixi S; Rao, Dongning D; Cheng, Yifei Y; Lin, Jian J; Ji, Shuyi S; Liu, Yuming Y; Jiang, Shan S; Wang, Xiaoliang X; Zhang, Shu S; Ke, Aiwu A; Wang, Xiaoying X; Cao, Ya Y; Ji, Yuan Y; Zhou, Jian J; Fan, Jia J; Zhang, Xiaoming X; Xi, Ruibin R; Gao, Qiang Q

Publication Date: 2022-03-28

Variant appearance in text: APOB: 6194A>G; D2065G

PubMed Link: 35347134

Variant Present in the following documents:

• 41467_2022_29164_MOESM13_ESM.xlsx, sheet 9

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Variants of Lipid-Related Genes in Adult Japanese Patients with Severe Hypertriglyceridemia.

Journal Of Atherosclerosis And Thrombosis

Matsunaga, Akira A; Nagashima, Mariko M; Yamagishi, Hideko H; Saku, Keijiro K

Publication Date: 2020-12-01

Variant appearance in text: APOB: 6194A>G; D2065G; rs764440678

PubMed Link: 32115487

Variant Present in the following documents:

• Main text
• jat-27-1264.pdf

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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: rs764440678

PubMed Link: 30076208

Variant Present in the following documents:

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

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Findings of a 1303 Korean whole-exome sequencing study.

Experimental & Molecular Medicine

Kwak, Soo Heon SH; Chae, Jeesoo J; Choi, Seongmin S; Kim, Min Jung MJ; Choi, Murim M; Chae, Jong-Hee JH; Cho, Eun-Hae EH; Hwang, Tai Ju TJ; Jang, Se Song SS; Kim, Jong-Il JI; Park, Kyong Soo KS; Bang, Yung-Jue YJ

Publication Date: 2017-07-14

Variant appearance in text: APOB: D2065G; rs764440678

PubMed Link: 28706299

Variant Present in the following documents:

• emm2017142x4.xls, sheet 1

View BVdb publication page