Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L279delFs
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LPL

NM_000237.3:p.L279delFs

Associated Papers

The hidden burden of kidney damage in chylomicronemia syndromes.

D'Erasmo L et al.

Atherosclerosis, 2026

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

Frameshift coding sequence variants in the LPL gene: identification of two novel events and exploration of the genotype-phenotype relationship for variants reported to date.

Zhang G et al.

Lipids in Health and Disease, 2023

Identification and Characterization of Two Novel Compounds: Heterozygous Variants of Lipoprotein Lipase in Two Pedigrees With Type I Hyperlipoproteinemia.

Wang S et al.

Frontiers in Endocrinology, 2022

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

Spectrum of Mutations and Long-Term Clinical Outcomes in Genetic Chylomicronemia Syndromes.

D'Erasmo L et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2019

31619059 (PubMed )
Supplement: atvb_atvb-2019-313401d_supp1.pdf

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

Rabacchi C et al.

Atherosclerosis, 2015

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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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."