Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.R174H
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NPC1L1

NM_001101648.2:p.R174H

Associated Papers

Identification and characterization of NPC1L1 variants in Uygur and Kazakh with extreme low-density lipoprotein cholesterol.

Yuan Q et al.

Biochemical and Biophysical Research Communications, 2016

Characterization of the NPC1L1 gene and proteome from an exceptional responder to ezetimibe.

Schweitzer M et al.

Atherosclerosis, 2016

Niemann-Pick C1-Like 1 and cholesterol uptake.

Wang LJ et al.

Biochimica Et Biophysica Acta, 2012

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."