Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.A125T
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LPL

NM_000237.3:p.A125T

Associated Papers

Functional analysis of intron 3 in the regulation of gene expression of the human lipoprotein lipase gene.

Sabri NH et al.

Cellular and Molecular Biology (noisy-le-grand, France), 2025

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

Germline variant analysis from a cohort of patients with severe hypertriglyceridemia in Brazil.

Mendes C et al.

Molecular Genetics and Metabolism Reports, 2024

Genetic Variants Associated with Severe Hypertriglyceridemia: LPL, APOC2, APOA5, GPIHBP1, LMF1, and APOE.

Abedi AH et al.

Turk Kardiyoloji Dernegi Arsivi : Turk Kardiyoloji Derneginin Yayin Organidir, 2023

Extreme intratumour heterogeneity and driver evolution in mismatch repair deficient gastro-oesophageal cancer.

von Loga K et al.

Nature Communications, 2020

31949146 (PubMed )
Supplement: 41467_2019_13915_MOESM4_ESM.xlsx › Tumor_1

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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