Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A288T
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LPL

NM_000237.3:p.A288T

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

Significant but partial lipoprotein lipase functional loss caused by a novel occurrence of rare LPL biallelic variants.

Hu Y et al.

Lipids in Health and Disease, 2024

Rare and common coding variants in lipid metabolism-related genes and their association with coronary artery disease.

Li W et al.

Bmc Cardiovascular Disorders, 2024

Understanding Hypertriglyceridemia: Integrating Genetic Insights.

Alves M et al.

Genes, 2024

The East Asian-specific LPL p.Ala288Thr (c.862G > A) missense variant exerts a mild effect on protein function.

Hu Y et al.

Lipids in Health and Disease, 2023

Case Report: Next-Generation Sequencing Identified a Novel Pair of Compound-Heterozygous Mutations of LPL Gene Causing Lipoprotein Lipase Deficiency.

Li Y et al.

Frontiers in Genetics, 2022

Minimal inflammatory foci of unknown etiology may be a tentative sign of early stage inherited cardiomyopathy.

Hata Y et al.

Modern Pathology : an Official Journal of the United States and Canadian Academy of Pathology, Inc, 2019

Feeding difficulty is the dominant feature in 12 Chinese newborns with CHD7 pathogenic variants.

Chen X et al.

Bmc Medical Genetics, 2019

31146700 (PubMed )
Supplement: 12881_2019_813_MOESM1_ESM.xls › CHD7_ChenXiang_query_Report_Fil

Intensive genetic analysis for Chinese patients with very high triglyceride levels: Relations of mutations to triglyceride levels and acute pancreatitis.

Jin JL et al.

Ebiomedicine, 2018

30420299 (PubMed )
Supplement: mmc1.pdf

Rare LPL gene missense mutation in an infant with hypertriglyceridemia.

Qin YY et al.

Journal of Clinical Laboratory Analysis, 2018

Genetic association, post-translational modification, and protein-protein interactions in Type 2 diabetes mellitus.

Sharma A et al.

Molecular & Cellular Proteomics : Mcp, 2005

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

Rodrigues R et al.

Journal of Clinical Lipidology, 0

Investigating genetic variants in early-onset obesity through exome sequencing: A retrospective cohort study.

Liu D et al.

Obesity Research & Clinical Practice, 0

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