Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.R306C
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NPC1L1

NM_001101648.2:p.R306C

Associated Papers

Gene polymorphism and frequencies of the NPC1L1 gene (rs2072183, rs217434 and rs217428) in Japanese patients with dyslipidemia.

Kashiwabara Y et al.

Journal of Clinical Pharmacy and Therapeutics, 2014

Hepatic triglyceride content in individuals with reduced intestinal cholesterol absorption due to variants in Nieman Pick C1-like 1.

Ramirez R et al.

Hepatology (baltimore, Md.), 2011

Molecular characterization of the NPC1L1 variants identified from cholesterol low absorbers.

Wang LJ et al.

The Journal of Biological Chemistry, 2011

Functional characterization of genetic variants in NPC1L1 supports the sequencing extremes strategy to identify complex trait genes.

Fahmi S et al.

Human Molecular Genetics, 2008

Effect of ezetimibe coadministered with statins in genotype-confirmed heterozygous FH patients.

Pisciotta L et al.

Atherosclerosis, 2007

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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."