{"id":"W2478496979","doi":"10.1056/nejmoa1405386","title":"Inactivating Mutations in <i>NPC1L1</i> and Protection from Coronary Heart Disease","year":2014,"lang":"en","type":"article","venue":"New England Journal of Medicine","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":423,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Center for Advancing Translational Sciences; National Institute of Nursing Research; National Cancer Institute; National Human Genome Research Institute; National Institute of Diabetes and Digestive and Kidney Diseases; National Heart, Lung, and Blood Institute; National Institute on Aging; National Institute for Health and Care Research; Canadian Institutes of Health Research; British Heart Foundation; Medical Research Council","keywords":"Ezetimibe; Medicine; Nonsense mutation; Internal medicine; Frameshift mutation; Coronary artery disease; Odds ratio; Point mutation; Endocrinology; Exon; Cholesterol; Mutation; Genetics; Gene; Missense mutation; Biology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02507927342589713,"score_gpt":0.2964017960618981,"score_spread":0.271322522636001,"validation_status":"score_only:v0-immature-baseline","note":"Baseline scores from an immature model (maturity gate not passed). Scores rank; they never assert a category."}}