Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.E143_E144Splc
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LPL

NM_000237.3:p.E143_E144Splc

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

Two novel mutations of the LPL gene in two Chinese family cases with familial chylomicronemia syndrome.

Wang M et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2021

What can we learn about lipoprotein metabolism and coronary heart disease from studying rare variants?

Jeff JM et al.

Current Opinion in Lipidology, 2016

Loss-of-function mutations in APOC3, triglycerides, and coronary disease.

Crosby J et al.

The New England Journal of Medicine, 2014

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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."