Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V227F
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LPL

NM_000237.3:p.V227F

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

Bashir B et al.

Genetics in Medicine Open, 2025

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

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

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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."