Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.S286R
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LPL

NM_000237.3:p.S286R

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

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.

Al-Waili K et al.

Frontiers in Genetics, 2022

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

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Wu YQ et al.

Bmc Pediatrics, 2021

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Qin YY et al.

Journal of Clinical Laboratory Analysis, 2018

Spectrum of mutations of the LPL gene identified in Italy in patients with severe hypertriglyceridemia.

Rabacchi C et al.

Atherosclerosis, 2015

[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

[Familial hypertriglyceridemia: biochemical, clinical and molecular study in a Moroccan family].

Bouabdellah M et al.

Annales De Biologie Clinique, 0

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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