Varaico: Literature-Extracted Genetic Variants

Gene:LDLR
Variant:p.S226F
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LDLR

NM_000527.5:p.S226F

Associated Papers

Predicting drug response and toxicity in metastatic colorectal cancer: the role of germline markers.

Bignucolo A et al.

Expert Review of Clinical Pharmacology, 2022

Impact of methylenetetrahydrofolate reductase C677T polymorphism on the efficacy of photodynamic therapy in patients with neovascular age-related macular degeneration.

Parmeggiani F et al.

Scientific Reports, 2019

LRP1 gene polymorphisms are associated with premature risk of cardiovascular disease in patients with familial hypercholesterolemia.

Aledo R et al.

Revista Espanola De Cardiologia (english Ed.), 2012

Fatal myocardial infarction at 4.5 years in a case of homozygous familial hypercholesterolaemia.

Gautschi M et al.

Jimd Reports, 2012

Impact of coagulation-balance gene predictors on efficacy of photodynamic therapy for choroidal neovascularization in pathologic myopia.

Parmeggiani F et al.

Ophthalmology, 2010

Impact of homocysteine-lowering vitamin therapy on long-term outcome of patients with coronary artery disease.

Mager A et al.

The American Journal of Cardiology, 2009

Association of C677T polymorphism in MTHFR gene, high homocysteine and low HDL cholesterol plasma values in heterozygous familial hypercholesterolemia.

Real JT et al.

Journal of Atherosclerosis and Thrombosis, 2009

Coagulation gene predictors of photodynamic therapy for occult choroidal neovascularization in age-related macular degeneration.

Parmeggiani F et al.

Investigative Ophthalmology & Visual Science, 2008

Osteoporosis: the role of genetics and the environment.

Ongphiphadhanakul B

Forum of Nutrition, 2007

Clinical applications of bioinformatics, genomics, and pharmacogenomics.

Iqbal O et al.

Methods in Molecular Biology (clifton, N.j.), 2006

Genetic determinants of cardiovascular disease risk in familial hypercholesterolemia.

Jansen AC et al.

Arteriosclerosis, Thrombosis, and Vascular Biology, 2005

[Genetic factors of risk of ischemic heart disease development in patients with familial hypercholesterolemia].

Meshkov AN et al.

Kardiologiia, 2005

Polymorphism in the P-selectin and interleukin-4 genes as determinants of stroke: a population-based, prospective genetic analysis.

Zee RY et al.

Human Molecular Genetics, 2004

Phenotypic variability in familial hypercholesterolaemia: an update.

Jansen AC et al.

Current Opinion in Lipidology, 2002

The C677T mutation in the methylenetetrahydrofolate reductase gene predisposes to hyperhomocysteinemia in children with familial hypercholesterolemia treated with cholestyramine.

Tonstad S et al.

The Journal of Pediatrics, 1998

Association between plasma total homocysteine and parental history of cardiovascular disease in children with familial hypercholesterolemia.

Tonstad S et al.

Circulation, 1997

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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."