Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.W113R
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LPL

NM_000237.3:p.W113R

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

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Szczęśniak D et al.

Archives of Medical Science : Ams, 2025

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

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

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

Genetic and clinical characteristics of patients with lipoprotein lipase deficiency from Slovenia and Pakistan: case series and systematic literature review.

Ain Q et al.

Frontiers in Endocrinology, 2024

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

The Effect of a Fat-Restricted Diet in Four Patients with Familial Chylomicronemia Syndrome: A Long-Term Follow-Up Study.

Thajer A et al.

Children (basel, Switzerland), 2021

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

Six years' experience with LipidSeq: clinical and research learnings from a hybrid, targeted sequencing panel for dyslipidemias.

Dron JS et al.

Bmc Medical Genomics, 2020

32041611 (PubMed )
Supplement: 12920_2020_669_MOESM1_ESM.xlsx › Supp_Table_4

Molecular analysis of three known and one novel LPL variants in patients with type I hyperlipoproteinemia.

Caddeo A et al.

Nutrition, Metabolism, and Cardiovascular Diseases : Nmcd, 2018

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

Rodrigues R et al.

Journal of Clinical Lipidology, 0

Incidental finding of severe hypertriglyceridemia in children. Role of multiple rare variants in genes affecting plasma triglyceride.

Buonuomo PS et al.

Journal of Clinical Lipidology, 0

Clinical and biochemical features of different molecular etiologies of familial chylomicronemia.

Hegele RA et al.

Journal of Clinical Lipidology, 0

Molecular genetic testing and measurement of levels of GPIHBP1 autoantibodies in patients with severe hypertriglyceridemia: The importance of identifying the underlying cause of hypertriglyceridemia.

Strøm TB et al.

Journal of Clinical Lipidology, 0

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."