Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.V227G
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LPL

NM_000237.3:p.V227G

Associated Papers

Pathogenicity assessment of genetic variants identified in patients with severe hypertriglyceridemia: Novel cases of familial chylomicronemia syndrome from the Dyslipidemia Registry of the Spanish Atherosclerosis Society.

Ariza MJ et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2025

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

Molecular and functional characterization of familial chylomicronemia syndrome.

Teramoto R et al.

Atherosclerosis, 2018

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

Post-heparin LPL activity measurement using VLDL as a substrate: a new robust method for routine assessment of plasma triglyceride lipolysis defects.

Di Filippo M et al.

Plos One, 2014

24886863 (PubMed )
Supplement: pone.0099721.s001.pdf
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