Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S220R
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LPL

NM_000237.3:p.S220R

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

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Ayoub C et al.

Frontiers in Genetics, 2022

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

Wu YQ et al.

Bmc Pediatrics, 2021

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

Caddeo A et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2018

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

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

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."