{"id":"W2152426559","doi":"","title":"Tuberous Sclerosis Complex: mutations, functions and phenotypes","year":2005,"lang":"en","type":"article","venue":"RePub (Erasmus University Rotterdam)","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; National Institutes of Health; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; Belgian Federal Science Policy Office; Savoy Foundation","keywords":"TSC1; TSC2; Tuberous sclerosis; Mutation; Phenotype; Biology; Genetics; Gene; Mutation testing; Molecular biology; Medicine; Pathology; PI3K/AKT/mTOR pathway","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002537983,0.0002466022,0.0002022596,0.0004615126,0.0002490684,0.0003103935,0.0001192503,0.0003004553,0.001656451],"category_scores_gemma":[0.001248642,0.0001014145,0.0001061736,0.000359629,0.0002343585,0.0001596943,0.0001866736,0.0001596499,0.0003432691],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001641322,"about_ca_system_score_gemma":0.0001222804,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001540624,"about_ca_topic_score_gemma":0.001628215,"domain_scores_codex":[0.9998347,0.0000305381,0.0000203809,0.00003933905,0.00004745204,0.0000276569],"domain_scores_gemma":[0.9997206,0.00007130759,0.00008828056,0.0000185853,0.00003485909,0.00006622864],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006140835,0.00007950621,0.96118,0.0000593706,0.00004664418,0.004401328,0.0005897837,0.0001846388,0.01939905,0.0001712554,0.0007225284,0.01255183],"study_design_scores_gemma":[0.00001610706,0.00006935151,0.9877183,0.00001413047,0.00001082658,0.0103833,0.0001189953,0.0001164871,0.0007175038,0.00008690808,0.0007427764,0.000005276727],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9981123,0.0004554804,0.00009121952,0.0000563843,0.000002382416,0.00000787245,0.0002277527,0.00000469696,0.001041794],"genre_scores_gemma":[0.9991323,0.0001699145,0.0001315877,0.00003348049,0.000006063699,0.000008038514,0.0002250055,0.000004197891,0.0002894235],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.001656451,"threshold_uncertainty_score":0.005541325,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05009442345566004,"score_gpt":0.2547222390652673,"score_spread":0.2046278156096073,"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."}}