Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.V55L
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NPC1L1

NM_001101648.2:p.V55L

Associated Papers

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

Schweitzer M et al.

Atherosclerosis, 2016

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

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

Wang LJ et al.

The Journal of Biological Chemistry, 2011

Compound heterozygosity for two non-synonymous polymorphisms in NPC1L1 in a non-responder to ezetimibe.

Wang J et al.

Clinical Genetics, 2005

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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."