{"id":"W3081843212","doi":"10.1186/s12883-020-01905-y","title":"A case report of severe tuberous sclerosis complex detected in utero and linked to a novel duplication in the TSC2 gene","year":2020,"lang":"en","type":"article","venue":"BMC Neurology","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canadian Sleep & Circadian Network; Centre Hospitalier Universitaire Sainte-Justine; Centre Intégré Universitaire de Santé et de Services Sociaux du Centre-Sud-de-l'Île-de-Montréal; Université de Montréal; Hôpital du Sacré-Cœur de Montréal","funders":"Canada Research Chairs","keywords":"Tuberous sclerosis; TSC2; Medicine; In utero; Fetus; Pathology; Microcephaly; TSC1; Gene duplication; White matter; Magnetic resonance imaging; Pregnancy; Pediatrics; Radiology; Biology; Genetics","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":[0.0005682297,0.002764857,0.002090502,0.00515079,0.003193273,0.002216011,0.001884248,0.007625207,0.002560574],"category_scores_gemma":[0.005243856,0.001759469,0.001492299,0.002145503,0.00252756,0.002052591,0.003054487,0.004658085,0.0007709302],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001696665,"about_ca_system_score_gemma":0.001576202,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003526622,"about_ca_topic_score_gemma":0.003322192,"domain_scores_codex":[0.9988004,0.0001444596,0.0001146717,0.0004491039,0.000161925,0.0003294317],"domain_scores_gemma":[0.99694,0.0008376413,0.0007523736,0.0002656476,0.0001678167,0.001036524],"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":[0.00001017161,0.00001042945,0.001295059,0.00001432155,0.000004626045,0.9977382,0.00008471812,0.00002907049,0.0002350135,0.00007699511,0.00013589,0.0003655219],"study_design_scores_gemma":[0.000003640186,0.00001741797,0.0007053627,0.000007593965,0.000004950406,0.9987457,0.00005053992,0.00004804315,0.00009719534,0.00008571841,0.0002279409,0.00000593995],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9525075,0.01383483,0.007310618,0.0090526,0.001411356,0.0004044706,0.001090989,0.0004169829,0.01397058],"genre_scores_gemma":[0.9870093,0.003823834,0.003502205,0.001602241,0.001551834,0.00007255642,0.0001903835,0.0000687455,0.002178906],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007625207,"threshold_uncertainty_score":0.01231021,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1888297190403664,"score_gpt":0.3252512175945494,"score_spread":0.1364214985541831,"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."}}