Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.L330P
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LPL

NM_000237.3:p.L330P

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 variant genetic landscape of familial chylomicronemia syndrome (FCS) in the United Kingdom.

Bashir B et al.

Genetics in Medicine Open, 2025

Genetic basis of hypertriglyceridemia.

Ariza Corbo MJ et al.

Clinica E Investigacion En Arteriosclerosis : Publicacion Oficial De La Sociedad Espanola De Arteriosclerosis, 2024

Ethnic Diversity and Distinctive Features of Familial Versus Multifactorial Chylomicronemia Syndrome: Insights From the UK FCS National Registry.

Bashir B et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2024

39234690 (PubMed )
Supplement: atv-44-2334-s001.pdf

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

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Qin YY et al.

Journal of Clinical Laboratory Analysis, 2018

Genetic screening of the LPL gene in hypertriglyceridaemic patients.

Wright WT et al.

Atherosclerosis, 2008

Pathogenic classification of LPL gene variants reported to be associated with LPL deficiency.

Rodrigues R et al.

Journal of Clinical Lipidology, 0

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."