Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.E282*
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LPL

NM_000237.3:p.E282*

Associated Papers

A delayed diagnosis of familial chylomicronemia syndrome in an elderly patient: Clinical implications of late-onset disease.

Calcaterra I et al.

Journal of Clinical Lipidology, 2025

Treatment With Evinacumab Links a New Pathogenic Variant in the LPL Gene to Persistent Chylomicronemia.

Larouche M et al.

Journal of the Endocrine Society, 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

Exploration of the potential of genomic editing in the treatment of congenital adrenal hyperplasia.

Graves LE et al.

Frontiers in Endocrinology, 2025

Evinacumab in severe hypertriglyceridemia with or without lipoprotein lipase pathway mutations: a phase 2 randomized trial.

Rosenson RS et al.

Nature Medicine, 2023

36879129 (PubMed )
Supplement: 41591_2023_2222_MOESM1_ESM.pdf

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

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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."