Publications:

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Bmc Pediatrics

Wu, Yun Qin YQ; Hu, Yue Yuan YY; Li, Gui Nan GN

Publication Date: 2021-09-20

Variant appearance in text: LPL: Arg116Gln

PubMed Link: 34544385

Variant Present in the following documents:

• Main text
• 12887_2021_Article_2875.pdf

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Maternally inherited diabetes and deafness coexists with lipoprotein lipase gene mutation-associated severe hyperlipidemia that was resistant to fenofibrate and atorvastatin, but sensitive to bezafibrate: A case report.

Journal Of Diabetes Investigation

Zhang, Xiaojuan X; Chen, Yongyong Y; Tong, Nanwei N; Shao, Qing Q; Zhou, Yueyang Y; Mu, Tong T; Yang, Xiaoling X; Zhang, Yuwei Y

Publication Date: 2022-02

Variant appearance in text: rs775728208

PubMed Link: 34460997

Variant Present in the following documents:

• Main text
• JDI-13-397.pdf

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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: 347G>A; Arg116Gln

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

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Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Ebiomedicine

Jin, Jing-Lu JL; Sun, Di D; Cao, Ye-Xuan YX; Zhang, Hui-Wen HW; Guo, Yuan-Lin YL; Wu, Na-Qiong NQ; 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

Variant appearance in text: LPL: 347G>A; R116Q

PubMed Link: 30420299

Variant Present in the following documents:

• mmc1.pdf

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iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.

Scientific Reports

Wang, Meng M; Wei, Liping L

Publication Date: 2016-08-16

Variant appearance in text: LPL: R116Q

PubMed Link: 27527004

Variant Present in the following documents:

• srep31321-s3.xls, sheet 1

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