Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R116P
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LPL

NM_000237.3:p.R116P

Associated Papers

A Case of Diabetes With a Rare Variant of Familial Combined Hyperlipidemia With an Atypical Phenotype.

Bhade K et al.

Cureus, 2025

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 variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

40919303 (PubMed )
Supplement: mmc1.pdf

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

Wu YQ et al.

Bmc Pediatrics, 2021

[A case of neonatal lipoprotein lipase deficiency caused by novel compound heterozygous variants of LPL gene].

Zhu L et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2020

[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."