Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D33V
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LPL

NM_000237.3:p.D33V

Associated Papers

Genetic Insights on Hypertriglyceridaemia-Induced Acute Pancreatitis in Pregnancy: A Case Series and Literature Review.

Nguyen CS et al.

Case Reports in Endocrinology, 2026

Association of lipoprotein lipase (LPL) gene variants with hyperlipidemic acute pancreatitis in southeastern Chinese population.

Li Y et al.

Archives of Endocrinology and Metabolism, 2024

Loss-of-Function Homozygous Variant in LPL Causes Type I Hyperlipoproteinemia and Renal Lipidosis.

Wu H et al.

Kidney International Reports, 2023

A Novel Lipoprotein Lipase Mutation in an Infant With Glycogen Storage Disease Type-Ib and Severe Hypertriglyceridemia.

Wang F et al.

Frontiers in Pediatrics, 2021

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

Jin JL et al.

Ebiomedicine, 2018

30420299 (PubMed )
Supplement: mmc1.pdf

Association of the HindIII Lipoprotein Lipase Gene Polymorphism with the Development of the Non-Biliary Acute Pancreatitis: a Pilot Study.

Samgina TA et al.

Bulletin of Experimental Biology and Medicine, 2016

Genetic Variants Associated with Gestational Hypertriglyceridemia and Pancreatitis.

Xie SL et al.

Plos One, 2015

A novel lipoprotein lipase gene missense mutation in Chinese patients with severe hypertriglyceridemia and pancreatitis.

Chen TZ et al.

Lipids in Health and Disease, 2014

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24788417 (PubMed )
Supplement: pone.0096482.s005.doc

[The association study of the promoter polymorphism -308G>A of tumor necrosis factor gene with the development and severity of acute pancreatitis in Russian population of Kursk region].

Samgina TA et al.

Eksperimental'naia I Klinicheskaia Gastroenterologiia = Experimental & Clinical Gastroenterology, 2014

Lipoprotein lipase: A bioinformatics criterion for assessment of mutations as a risk factor for cardiovascular disease.

Glisic S et al.

Proteins, 2008

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

Rodrigues R et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."