Publications:

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Next-generation sequencing identified novel Desmoplakin frame-shift variant in patients with Arrhythmogenic cardiomyopathy.

Bmc Cardiovascular Disorders

Lin, Xiaoping X; Ma, Yuankun Y; Cai, Zhejun Z; Wang, Qiyuan Q; Wang, Lihua L; Huo, Zhaoxia Z; Hu, Dan D; Wang, Jian'an J; Xiang, Meixiang M

Publication Date: 2020-02-11

Variant appearance in text: PLTP: -12+26G>C; rs2294213

PubMed Link: 32046637

Variant Present in the following documents:

• 12872_2020_1369_MOESM1_ESM.xlsx, sheet 1

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Genetic determinants of inherited susceptibility to hypercholesterolemia - a comprehensive literature review.

Lipids In Health And Disease

Paththinige, C S CS; Sirisena, N D ND; Dissanayake, Vhw V

Publication Date: 2017-06-02

Variant appearance in text: rs2294213

PubMed Link: 28577571

Variant Present in the following documents:

• Main text
• 12944_2017_Article_488.pdf

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Role of plasma phospholipid transfer protein in lipid and lipoprotein metabolism.

Biochimica Et Biophysica Acta

Albers, John J JJ; Vuletic, Simona S; Cheung, Marian C MC

Publication Date: 2012-03

Variant appearance in text: rs2294213

PubMed Link: 21736953

Variant Present in the following documents:

• Main text

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Genetic causes of high and low serum HDL-cholesterol.

Journal Of Lipid Research

Weissglas-Volkov, Daphna D; Pajukanta, Päivi P

Publication Date: 2010-08

Variant appearance in text: rs2294213

PubMed Link: 20421590

Variant Present in the following documents:

• Main text

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Genetic and nongenetic sources of variation in phospholipid transfer protein activity.

Journal Of Lipid Research

Jarvik, Gail P GP; Rajagopalan, Ramakrishnan R; Rosenthal, Elisabeth A EA; Wolfbauer, Gertrud G; McKinstry, Laura L; Vaze, Aditya A; Brunzell, John J; Motulsky, Arno G AG; Nickerson, Deborah A DA; Heagerty, Patrick J PJ; Wijsman, Ellen M EM; Albers, John J JJ

Publication Date: 2010-05

Variant appearance in text: rs2294213

PubMed Link: 19965587

Variant Present in the following documents:

• Main text

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Plasma PLTP activity is inversely associated with HDL-C levels.

Nutrition & Metabolism

Chen, Xueying X; Sun, Aijun A; Mansoor, Ather A; Zou, Yunzeng Y; Ge, Junbo J; Lazar, Jason M JM; Jiang, Xian-Cheng XC

Publication Date: 2009-11-30

Variant appearance in text: rs2294213

PubMed Link: 19948027

Variant Present in the following documents:

• Main text
• 1743-7075-6-49.pdf

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Genetic variation in phospholipid transfer protein modulates lipoprotein profiles in hyperalphalipoproteinemia.

Metabolism: Clinical And Experimental

Engler, Mary B MB; Pullinger, Clive R CR; Malloy, Mary J MJ; Natanzon, Yanina Y; Kulkarni, Medha V MV; Song, James J; Eng, Celeste C; Huuskonen, Jaarko J; Rivera, Christopher C; Poon, Annie A; Bensley, Matt M; Sehnert, Amy A; Zellner, Christian C; Kane, John J; Aouizerat, Bradley E BE

Publication Date: 2008-12

Variant appearance in text: rs2294213

PubMed Link: 19013296

Variant Present in the following documents:

• Main text

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