Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.M328T
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LPL

NM_000237.3:p.M328T

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

The Genetic Spectrum of Familial Hypertriglyceridemia in Oman.

Al-Waili K et al.

Frontiers in Genetics, 2022

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

Wu YQ et al.

Bmc Pediatrics, 2021

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Qin YY et al.

Journal of Clinical Laboratory Analysis, 2018

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

Liu J et al.

Zhonghua Yi Xue Za Zhi, 2005

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."