Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.P241S
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LPL

NM_000237.3:p.P241S

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

Lipoprotein Lipase Deficiency.

Kuthiroly S et al.

Indian Journal of Pediatrics, 2021

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf

Pancreatitis in a child with lipemia due to novel lipoprotein lipase mutations.

Gupta N et al.

Journal of Pediatric Gastroenterology and Nutrition, 2010

Genotype-phenotype relationships in patients with type I hyperlipoproteinemia.

Chokshi N 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."