Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.D201V
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LPL

NM_000237.3:p.D201V

Associated Papers

Lipoprotein Lipase: Structure, Function, and Genetic Variation.

Perera SD et al.

Genes, 2025

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

Low circulating PCSK9 levels in LPL homozygous children with chylomicronemia syndrome in a syrian refugee family in Lebanon.

Ayoub C et al.

Frontiers in Genetics, 2022

Therapeutic plasma exchange for the management of severe gestational hypertriglyceridaemic pancreatitis due to lipoprotein lipase mutation.

Kim AS et al.

Endocrinology, Diabetes & Metabolism Case Reports, 2020

Structure of the lipoprotein lipase-GPIHBP1 complex that mediates plasma triglyceride hydrolysis.

Birrane G et al.

Proceedings of the National Academy of Sciences of the United States of America, 2019

Identification of the first Lebanese mutation in the LPL gene and description of a rapid detection method.

Abifadel M et al.

Clinical Genetics, 2004

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."