Varaico: Literature-Extracted Genetic Variants

Gene:LIPC
Variant:p.R65*
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LIPC

NM_000236.3:p.R65*

Associated Papers

Phenotype in Individuals with Heterozygous Rare Variants in LIPC Encoding Hepatic Lipase.

Jacob EO et al.

International Journal of Molecular Sciences, 2024

39518997 (PubMed )
Supplement: ijms-25-11445-s001.zip › ijms-3260441-supplementary.pdf

Human variant of scavenger receptor BI (R174C) exhibits impaired cholesterol transport functions.

May SC et al.

Journal of Lipid Research, 2021

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

Polygenic determinants in extremes of high-density lipoprotein cholesterol.

Dron JS et al.

Journal of Lipid Research, 2017

28870971 (PubMed )
Supplement: 10.1194_M079822_jlr.M079822-1.pdf
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