{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004514105,0.0005925862,0.0003593559,0.001316125,0.003355647,0.0006953742,0.0007171141,0.0003779006,0.002354709],"category_scores_gemma":[0.001280018,0.0003278352,0.0003459931,0.002011962,0.0006027576,0.0002984443,0.0006995875,0.0004109535,0.0002399452],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.008041365,"about_ca_system_score_gemma":0.01171419,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.9511333,"about_ca_topic_score_gemma":0.9600164,"domain_scores_codex":[0.9994362,0.00003146899,0.00002214319,0.0001192213,0.0002250018,0.0001659074],"domain_scores_gemma":[0.9993576,0.00003172953,0.0001089919,0.00003034984,0.0002882378,0.0001830644],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00007680272,0.00002498173,0.989344,0.00002648082,0.00003228777,0.001262253,0.001243542,0.0001065197,0.001178782,0.0001774585,0.001209949,0.005316934],"study_design_scores_gemma":[0.00001402228,0.00006191596,0.9921253,0.00003290123,0.0000401663,0.00339688,0.001703387,0.0002584316,0.0001696508,0.00005361084,0.002122448,0.00002128826],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951711,0.000323478,0.000146201,0.000178719,0.000008120857,0.00004745836,0.00172914,0.00001049402,0.002385212],"genre_scores_gemma":[0.9980895,0.000410584,0.0002517331,0.00006942978,0.000004801165,0.00001552631,0.000687867,0.000007391294,0.0004631438],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.04886669,"threshold_uncertainty_score":0.09830892,"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."}}