Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.G434R
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NPC1L1

NM_001101648.2:p.G434R

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

Niemann-Pick C1-Like 1 and cholesterol uptake.

Wang LJ et al.

Biochimica Et Biophysica Acta, 2012

Mechanisms and genetic determinants regulating sterol absorption, circulating LDL levels, and sterol elimination: implications for classification and disease risk.

Calandra S et al.

Journal of Lipid Research, 2011

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

In-vitro characterization of the six clustered variants of NPC1L1 observed in cholesterol low absorbers.

Yamanashi Y et al.

Pharmacogenetics and Genomics, 2009

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

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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."