{"id":"W2022972199","doi":"10.1161/01.cir.0000050545.21826.ad","title":"Aortic Xanthomatosis With Coronary Ostial Occlusion in a Child Homozygous for a Nonsense Mutation in <i>ABCG8</i>","year":2003,"lang":"en","type":"article","venue":"Circulation","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":51,"is_retracted":false,"has_abstract":true,"ca_institutions":"St. Paul's Hospital","funders":"","keywords":"Medicine; Cardiology; Internal medicine; Nonsense mutation; Coronary occlusion; Nonsense; Occlusion; Mutation; Genetics; Missense mutation","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":[0.0003653836,0.001905136,0.000808206,0.001663939,0.00160054,0.0008987461,0.0006304147,0.002651582,0.002534963],"category_scores_gemma":[0.001694285,0.001077704,0.0007494818,0.00101815,0.001258973,0.0009411738,0.000795352,0.001825556,0.000630436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005341116,"about_ca_system_score_gemma":0.0004801482,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002241379,"about_ca_topic_score_gemma":0.002275303,"domain_scores_codex":[0.9995921,0.00004225094,0.00004250944,0.0001035142,0.00006558147,0.0001540284],"domain_scores_gemma":[0.9990963,0.0002818791,0.0002146252,0.00002746149,0.00004377642,0.000335923],"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":[0.00009468983,0.00009552782,0.01910695,0.00003832848,0.00001767481,0.9744913,0.0004140977,0.00005289371,0.003978091,0.000222094,0.0003150514,0.001173411],"study_design_scores_gemma":[0.00006455577,0.0005198877,0.0517439,0.00003803157,0.00005674339,0.9452595,0.0002438175,0.0002549607,0.0008397875,0.0001034848,0.0008569067,0.00001850487],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942774,0.0005556708,0.0006305261,0.0007147526,0.0001273778,0.00005626948,0.0002123365,0.0001182789,0.003307341],"genre_scores_gemma":[0.9978428,0.0003728642,0.0004318862,0.0002294468,0.0001745263,0.00001708844,0.00009949823,0.00002538053,0.0008065905],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002651582,"threshold_uncertainty_score":0.008480251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008955520694543914,"score_gpt":0.249490366359792,"score_spread":0.2405348456652481,"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."}}