Varaico: Literature-Extracted Genetic Variants

Gene:OSBPL1A
Variant:p.C39*
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OSBPL1A

NM_080597.4:p.C39*

Associated Papers

Genetics and regulation of HDL metabolism.

Kardassis D et al.

Biochimica Et Biophysica Acta. Molecular and Cell Biology of Lipids, 2022

Exome sequencing of familial high-grade serous ovarian carcinoma reveals heterogeneity for rare candidate susceptibility genes.

Subramanian DN et al.

Nature Communications, 2020

32242007 (PubMed )
Supplement: 41467_2020_15461_MOESM4_ESM.xlsx › Data_1

Three patients with homozygous familial hypercholesterolemia: Genomic sequencing and kindred analysis.

Wong KHY et al.

Molecular Genetics & Genomic Medicine, 2019

Importance of genetic background of oxysterol signaling in cancer.

Holy P et al.

Biochimie, 2018

A loss-of-function variant in OSBPL1A predisposes to low plasma HDL cholesterol levels and impaired cholesterol efflux capacity.

Motazacker MM et al.

Atherosclerosis, 2016

Evidence of a polygenic origin of extreme high-density lipoprotein cholesterol levels.

Motazacker MM et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2013

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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."