Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.N281fs
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LPL

NM_000237.3:p.N281fs

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

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

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

Rabacchi C et al.

Atherosclerosis, 2015

Severe hypertriglyceridemia in a newborn with monogenic lipoprotein lipase deficiency: an unconventional therapeutic approach with exchange transfusion.

Pugni L et al.

Jimd Reports, 2014

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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."