{"id":"W2592870701","doi":"10.1161/atvb.33.suppl_1.a5","title":"Abstract 5: A Novel APOE p.Leu166del Mutation in Autosomal Dominant Familial Hypercholesterolemia","year":2013,"lang":"en","type":"article","venue":"Arteriosclerosis Thrombosis and Vascular Biology","topic":"Lipoproteins and Cardiovascular Health","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Jewish General Hospital; McGill University Health Centre; Montreal Clinical Research Institute","funders":"","keywords":"PCSK9; Apolipoprotein B; Kexin; Exome sequencing; LDL receptor; Familial hypercholesterolemia; Apolipoprotein E; Genetics; Exon; Proband; Internal medicine; Compound heterozygosity; Mutation; Lipoprotein; Biology; Molecular biology; Endocrinology; Medicine; Cholesterol; Gene","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002037329,0.001490691,0.0004157004,0.0007078825,0.0008116052,0.0003308983,0.000590505,0.002270137,0.005153701],"category_scores_gemma":[0.0007053088,0.0002701861,0.0006266121,0.0003437898,0.0003871252,0.0002934685,0.0005067152,0.000703375,0.001749435],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000347296,"about_ca_system_score_gemma":0.0003594004,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00165098,"about_ca_topic_score_gemma":0.001327178,"domain_scores_codex":[0.99976,0.00002817253,0.00003790205,0.00006893571,0.00006267606,0.00004228516],"domain_scores_gemma":[0.9996419,0.0001092565,0.00005111887,0.00001339731,0.00004827732,0.0001360046],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001851095,0.0001314505,0.00776527,0.00005862852,0.0000232338,0.958958,0.0002720429,0.0001233753,0.02796202,0.000368459,0.0007564586,0.003395899],"study_design_scores_gemma":[0.0001307906,0.000441064,0.04595839,0.00006353627,0.0000881446,0.9271969,0.0002018863,0.001289999,0.01904873,0.000621994,0.004906157,0.00005246295],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859978,0.0005204236,0.003120905,0.001403035,0.0003835603,0.0001365717,0.0006868438,0.0002194533,0.007531489],"genre_scores_gemma":[0.9934636,0.0001245703,0.00132466,0.0005410374,0.0001538866,0.00001576057,0.000327107,0.0000416702,0.004007759],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005153701,"threshold_uncertainty_score":0.01724088,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.032719978114701,"score_gpt":0.2820007814394529,"score_spread":0.2492808033247519,"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."}}