{"id":"W3158610953","doi":"10.1177/2329048x211012817","title":"The Phenotypic Spectrum of Tuberous Sclerosis Complex: A Canadian Cohort","year":2021,"lang":"en","type":"article","venue":"Child Neurology Open","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; McMaster Children's Hospital","funders":"","keywords":"Tuberous sclerosis; TSC1; TSC2; Cohort; Genotype; Phenotype; Medicine; Pediatrics; Genotype-phenotype distinction; Epilepsy; Retrospective cohort study; Mutation; Intellectual disability; Genetics; Internal medicine; Pathology; Biology; Psychiatry; Gene; PI3K/AKT/mTOR pathway","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":["insufficient_payload"],"consensus_categories":[],"category_scores_codex":[0.0004632244,0.0001859382,0.0005146704,0.0001140779,0.0005747793,0.00009471163,0.0008968163,0.0001234614,0.00136982],"category_scores_gemma":[0.0003465732,0.0001475091,0.0001114458,0.0004965304,0.0004947384,0.00007840274,0.0006443004,0.0006474063,0.0001683808],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00006774042,"about_ca_system_score_gemma":0.0007347193,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.04123833,"about_ca_topic_score_gemma":0.2566392,"domain_scores_codex":[0.9976883,0.0003299702,0.0003801634,0.0005344915,0.0003178542,0.0007491977],"domain_scores_gemma":[0.997882,0.0002937254,0.00007850028,0.001166879,0.000169726,0.0004091831],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001282025,0.0006028369,0.8867577,0.00007680601,0.0007964729,0.0007948593,0.0003165297,0.00004500169,0.01518959,0.02179669,0.05776991,0.01457153],"study_design_scores_gemma":[0.001298618,0.0003786635,0.9553577,0.00003079838,0.00005843628,0.0008839385,0.00001610726,0.000120131,0.003098185,0.0004203272,0.03822061,0.0001164275],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7864059,0.0004689741,0.000005086978,0.1568763,0.0002274313,0.001213194,0.00003770695,0.00003075053,0.05473461],"genre_scores_gemma":[0.9845148,0.0001506956,0.00008135362,0.01418355,0.0001189211,0.00005673585,0.00005024601,0.0000449712,0.000798731],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2154009,"threshold_uncertainty_score":0.9995431,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06426785022094297,"score_gpt":0.2950192211600356,"score_spread":0.2307513709390927,"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."}}