Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P58R
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LPL

NM_000237.3:p.P58R

Associated Papers

Lipoprotein Lipase: Structure, Function, and Genetic Variation.

Perera SD et al.

Genes, 2025

39858602 (PubMed )
Supplement: genes-16-00055-s001.zip › genes-3401157-supplementary.pdf

Clinical heterogeneity in monogenic chylomicronaemia.

Heidemann BE et al.

Bmj Case Reports, 2022

[An abnormal lipid profile: when to perform additional research for a genetic cause?]

Heidemann BE et al.

Nederlands Tijdschrift Voor Geneeskunde, 2022

Severe hypertriglyceridaemia and pancreatitis in a patient with lipoprotein lipase deficiency based on mutations in lipoprotein lipase (LPL) and apolipoprotein A5 (APOA5) genes.

Koopal C et al.

Bmj Case Reports, 2019

[Single nucleotide polymorphisms of genes associated with high density lipoprotein metabolism in Chinese population].

Cui HB et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Single-nucleotide polymorphisms in the lipoprotein lipase gene associated with coronary heart disease in Chinese.

Su ZG et al.

European Journal of Pharmacology, 2002

Relationship between a novel polymorphism of lipoprotein lipase gene and coronary heart disease.

Su Z et al.

Chinese Medical Journal, 2002

A preliminary study of single nucleotide polymorphisms of lipoprotein lipase gene in coronary atherosclerotic heart disease.

Su Z et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2000

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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."