{"id":"W3104743366","doi":"10.1161/circgen.120.003123","title":"Novel Gain-of-Function Variant in <i>CACNA1C</i> Associated With Timothy Syndrome, Multiple Accessory Pathways, and Noncompaction Cardiomyopathy","year":2020,"lang":"en","type":"letter","venue":"Circulation Genomic and Precision Medicine","topic":"Cardiomyopathy and Myosin Studies","field":"Medicine","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"Université de Montréal; Montreal Heart Institute","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Cardiomyopathy; Cardiology; Left ventricular noncompaction; Internal medicine; Gain of function; Heart failure; Genetics; Mutation; Gene","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":[0.0005826093,0.001182601,0.001127256,0.0008643952,0.001549466,0.0009497929,0.001212415,0.01407604,0.00278622],"category_scores_gemma":[0.005137646,0.0003184054,0.001107585,0.0005071077,0.001459556,0.0009709108,0.000473713,0.006669475,0.0008856196],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001193405,"about_ca_system_score_gemma":0.0008866336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003515844,"about_ca_topic_score_gemma":0.003292394,"domain_scores_codex":[0.9992843,0.0001340336,0.00009584028,0.0001885852,0.0001409507,0.0001562278],"domain_scores_gemma":[0.9981529,0.001120465,0.0001193595,0.00006098479,0.0001989013,0.0003472662],"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":[0.0003293789,0.00008844483,0.009404906,0.00007352485,0.00005382775,0.9315056,0.0002464397,0.0002212757,0.003400822,0.002258985,0.04798016,0.004436691],"study_design_scores_gemma":[0.0003973693,0.0003210892,0.02010334,0.0002452031,0.0002107267,0.9260299,0.0005364391,0.004203435,0.002035262,0.007538531,0.03826484,0.0001138758],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.2708499,0.006002479,0.003784285,0.6510789,0.03220573,0.0002026539,0.001384878,0.0004294649,0.03406171],"genre_scores_gemma":[0.7305756,0.002325382,0.003521752,0.1707343,0.07874328,0.0001036391,0.000456157,0.0001425838,0.01339733],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01407604,"threshold_uncertainty_score":0.009320855,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03929953221610113,"score_gpt":0.2442380235570513,"score_spread":0.2049384913409501,"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."}}