Varaico: Literature-Extracted Genetic Variants

Gene:NPC1L1
Variant:p.R406*
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NPC1L1

NM_001101648.2:p.R406*

Associated Papers

Targeted Sequencing of 242 Clinically Important Genes in the Russian Population From the Ivanovo Region.

Ramensky VE et al.

Frontiers in Genetics, 2021

34691145 (PubMed )
Supplement: Data_Sheet_2.xlsx › Supplementary_Table_3

Meta-analysis of 49 549 individuals imputed with the 1000 Genomes Project reveals an exonic damaging variant in ANGPTL4 determining fasting TG levels.

van Leeuwen EM et al.

Journal of Medical Genetics, 2016

Genetics of Coronary Artery Disease.

McPherson R et al.

Circulation Research, 2016

Protective alleles and modifier variants in human health and disease.

Harper AR et al.

Nature Reviews. Genetics, 2015

Genetics of coronary heart disease: towards causal mechanisms, novel drug targets and more personalized prevention.

Orho-Melander M

Journal of Internal Medicine, 2015

Common single nucleotide polymorphisms at the NPC1L1 gene locus significantly predict cardiovascular risk in coronary patients.

Muendlein A et al.

Atherosclerosis, 2015

Mutations in NPC1L1 and coronary heart disease.

Mirshahi UL et al.

The New England Journal of Medicine, 2015

Mutations in NPC1L1 and coronary heart disease.

Weingärtner O et al.

The New England Journal of Medicine, 2015

Mutations in NPC1L1 and coronary heart disease.

Silbernagel G et al.

The New England Journal of Medicine, 2015

Mutations in NPC1L1 and coronary heart disease.

Villa F

The New England Journal of Medicine, 2015

Inactivating mutations in NPC1L1 and protection from coronary heart disease.

Stitziel NO et al.

The New England Journal of Medicine, 2014

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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."