Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.L110F
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NPC1L1

NM_001101648.2:p.L110F

Associated Papers

The Genetic Landscape of Ocular Adnexa MALT Lymphoma Reveals Frequent Aberrations in NFAT and MEF2B Signaling Pathways.

Magistri M et al.

Cancer Research Communications, 2021

35528192 (PubMed )
Supplement: crc-21-0022-s03.xlsx › HCandMUTECT_variants_mutrate10g

Computational Modeling Explains the Multi Sterol Ligand Specificity of the N-Terminal Domain of Niemann-Pick C1-Like 1 Protein.

Poongavanam V et al.

Acs Omega, 2019

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

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

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."