Varaico: Literature-Extracted Genetic Variants

Gene:LPL
Variant:p.R219*
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LPL

NM_000237.3:p.R219*

Associated Papers

Assessment of Pediatric Hypertriglyceridemia Etiology: Insights from Next-Generation Sequencing Panels and Identification of Novel Variants.

Anlas O et al.

Biochemical Genetics, 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

Lipoprotein lipase deficiency: heterozygotes match homozygotes in severity.

Szczęśniak D et al.

Archives of Medical Science : Ams, 2025

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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