{"id":"W2040650607","doi":"10.1161/circheartfailure.114.001666","title":"Novel Mutation in Exon 14 of the Sarcomere Gene <i>MYH7</i> in Familial Left Ventricular Noncompaction With Bicuspid Aortic Valve","year":2014,"lang":"en","type":"article","venue":"Circulation Heart Failure","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":30,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"Canadian Institutes of Health Research; Alberta Innovates; Heart and Stroke Foundation of Canada","keywords":"MYH7; Internal medicine; Cardiology; Bicuspid aortic valve; Medicine; Gene; Aortic valve; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.000264974,0.001270939,0.0005757811,0.001342985,0.0008849326,0.0003426867,0.0008698757,0.00226542,0.002069915],"category_scores_gemma":[0.001586716,0.000314779,0.0006438332,0.0004318891,0.00115447,0.0003486335,0.0005913614,0.0007922669,0.0003167677],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003009648,"about_ca_system_score_gemma":0.0002842623,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001296712,"about_ca_topic_score_gemma":0.001056419,"domain_scores_codex":[0.9996977,0.0000437123,0.00004059595,0.00008883984,0.0000568825,0.0000723247],"domain_scores_gemma":[0.9990253,0.0004915719,0.0001478116,0.0000319254,0.00007444202,0.0002289305],"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":[0.0002730619,0.000125306,0.02991,0.00004221486,0.00005249152,0.9350839,0.000359302,0.000163784,0.03145592,0.0003968998,0.0003087768,0.001828295],"study_design_scores_gemma":[0.0001840994,0.0008677036,0.128152,0.00005054714,0.0002016636,0.8546171,0.0004900185,0.001687404,0.0117438,0.0006032116,0.001349505,0.00005306664],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9965501,0.0002684769,0.0007309827,0.0003984048,0.0001354771,0.0000229678,0.00008588732,0.0000246428,0.0017832],"genre_scores_gemma":[0.998984,0.00004480904,0.0003134215,0.0001188557,0.00009396764,0.000006420034,0.00004761576,0.000006664075,0.0003841787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00226542,"threshold_uncertainty_score":0.00692457,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01110528432281378,"score_gpt":0.2381675823241683,"score_spread":0.2270622980013545,"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."}}