Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.G81D
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LPL

NM_000237.3:p.G81D

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

Rare novel LPL mutations are associated with neonatal onset lipoprotein lipase (LPL) deficiency in two cases.

Wu YQ et al.

Bmc Pediatrics, 2021

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

Rabacchi C et al.

Atherosclerosis, 2015

Treatment of primary hypertriglyceridemia states--General approach and the role of extracorporeal methods.

Stefanutti C et al.

Atherosclerosis. Supplements, 2015

A three month-old infant with severe hyperchylomicronemia: molecular diagnosis and extracorporeal treatment.

Stefanutti C et al.

Atherosclerosis. Supplements, 2013

[The effect of lipoprotein lipase (LPL) polymorphism on plasma LPL concentration and triglyceride].

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

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

Hegele RA 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."