Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.Q133*
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LPL

NM_000237.3:p.Q133*

Associated Papers

Functional analysis of intron 3 in the regulation of gene expression of the human lipoprotein lipase gene.

Sabri NH et al.

Cellular and Molecular Biology (noisy-le-grand, France), 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

Rare variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf

Identification of a novel LPL nonsense variant and further insights into the complex etiology and expression of hypertriglyceridemia-induced acute pancreatitis.

Li XY et al.

Lipids in Health and Disease, 2020

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

Rodrigues R et al.

Journal of Clinical Lipidology, 0

Rare genetic variants with large effect on triglycerides in subjects with a clinical diagnosis of familial vs nonfamilial hypertriglyceridemia.

De Castro-Orós I et al.

Journal of Clinical Lipidology, 0

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