Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Q240H
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LPL

NM_000237.3:p.Q240H

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

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

Wu YQ et al.

Bmc Pediatrics, 2021

Severe Hypertriglyceridemia due to a novel p.Q240H mutation in the Lipoprotein Lipase gene.

Soto AG et al.

Lipids in Health and Disease, 2015

[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

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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."