Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S278C
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LPL

NM_000237.3:p.S278C

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

Mutations in LPL, APOC2, APOA5, GPIHBP1 and LMF1 in patients with severe hypertriglyceridaemia.

Surendran RP et al.

Journal of Internal Medicine, 2012

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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