Publications:

Network expansion of genetic associations defines a pleiotropy map of human cell biology.

Nature Genetics

Barrio-Hernandez, Inigo I; Schwartzentruber, Jeremy J; Shrivastava, Anjali A; Del-Toro, Noemi N; Gonzalez, Asier A; Zhang, Qian Q; Mountjoy, Edward E; Suveges, Daniel D; Ochoa, David D; Ghoussaini, Maya M; Bradley, Glyn G; Hermjakob, Henning H; Orchard, Sandra S; Dunham, Ian I; Anderson, Carl A CA; Porras, Pablo P; Beltrao, Pedro P

Publication Date: 2023-02-23

Variant appearance in text: LPL: 928T>C; Cys310Arg

PubMed Link: 36823319

Variant Present in the following documents:

• 41588_2023_1327_MOESM4_ESM.xlsx, sheet 6

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Plasma exchange therapy for familial chylomicronemia syndrome in infant: A case report.

Medicine

Han, Lei L; Qiang, Guangfeng G; Yang, Lei L; Kou, Rui R; Li, Qiubo Q; Xin, Meiyun M; Liu, Ruihan R; Zhang, Zhengjun Z

Publication Date: 2022-08-12

Variant appearance in text: LPL: 928T>C

PubMed Link: 35960041

Variant Present in the following documents:

• Main text
• medi-101-e29689.pdf

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Inborn errors of metabolism: Lessons from iPSC models.

Reviews In Endocrine & Metabolic Disorders

Escribá, Rubén R; Ferrer-Lorente, Raquel R; Raya, Ángel Á

Publication Date: 2021-12

Variant appearance in text: LPL: 928T>C; C310R

PubMed Link: 34241766

Variant Present in the following documents:

• 11154_2021_9671_MOESM1_ESM.pdf

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Identification and functional characterization of mutations in LPL gene causing severe hypertriglyceridaemia and acute pancreatitis.

Journal Of Cellular And Molecular Medicine

Han, Peng P; Wei, Guohong G; Cai, Ke K; Xiang, Xi X; Deng, Wang Ping WP; Li, Yan Bing YB; Kuang, Shan S; Dong, Zhanying Z; Zheng, Tianyu T; Luo, Yonglun Y; Liu, Junnian J; Guan, Yuanning Y; Li, Chen C; Dey, Subrata Kumar SK; Liao, Zhihong Z; Banerjee, Santasree S

Publication Date: 2020-01

Variant appearance in text: LPL: C310R

PubMed Link: 31901151

Variant Present in the following documents:

• JCMM-24-1286.pdf

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Severe hypertriglyceridemia due to two novel loss-of-function lipoprotein lipase gene mutations (C310R/E396V) in a Chinese family associated with recurrent acute pancreatitis.

Oncotarget

Lun, Yu Y; Sun, Xiaofang X; Wang, Ping P; Chi, Jingwei J; Hou, Xu X; Wang, Yangang Y

Publication Date: 2017-07-18

Variant appearance in text: LPL: C310R

PubMed Link: 28548960

Variant Present in the following documents:

• Main text
• oncotarget-08-47741.pdf

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