Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.C243S
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LPL

NM_000237.3:p.C243S

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

40919303 (PubMed )
Supplement: mmc1.pdf

Clinical characterization and mutation spectrum of patients with hypertriglyceridemia in a German outpatient clinic.

Bardey F et al.

Journal of Lipid Research, 2024

38969064 (PubMed )
Supplement: mmc1.pdf

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

Gene Therapy in Lipoprotein Lipase Deficiency: Case Report on the First Patient Treated with Alipogene Tiparvovec Under Daily Practice Conditions.

Kassner U et al.

Human Gene Therapy, 2018

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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