{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006829486,0.0004686873,0.001597228,0.0005097799,0.0001364437,0.00002126086,0.00008023117,0.0005298302,0.00002906935],"category_scores_gemma":[0.000512046,0.0003705115,0.0001219343,0.0004798538,0.0002763219,0.0001245399,0.00008951565,0.001024004,0.000003212709],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002254469,"about_ca_system_score_gemma":0.0001393462,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001529266,"about_ca_topic_score_gemma":0.00001263151,"domain_scores_codex":[0.9972906,0.0001728849,0.0008317619,0.0007641674,0.0006361046,0.0003045352],"domain_scores_gemma":[0.9979621,0.0007480717,0.0005528504,0.0003543246,0.000233017,0.0001496523],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.01182953,0.0009064503,0.3334656,0.008577088,0.007950909,0.01346586,0.02273636,0.003431773,0.1270162,0.0001360945,0.3595259,0.1109582],"study_design_scores_gemma":[0.01132843,0.001330479,0.9467572,0.003308916,0.001906412,0.002185579,0.0005036385,0.003084069,0.00002801978,0.0002078043,0.0287527,0.000606783],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.8148838,0.01637778,0.04818831,0.1104437,0.002306028,0.004584147,0.0003800102,0.0002637636,0.002572453],"genre_scores_gemma":[0.9656671,0.0008177501,0.0001730051,0.03132276,0.001021137,0.00004151689,0.0008008945,0.00007157614,0.00008427491],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6132916,"threshold_uncertainty_score":0.9998747,"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."}}