{"id":"W2028024624","doi":"10.1177/0883073807308715","title":"Rett Syndrome: North American Database","year":2007,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":100,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Research Resources; National Institutes of Health; Civitan International","keywords":"Rett syndrome; MECP2; Missense mutation; Mutation; Nonsense mutation; Genetics; Medicine; Pediatrics; Biology; Gene; Phenotype","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":[],"consensus_categories":[],"category_scores_codex":[0.0002116265,0.0001262437,0.0001832655,0.000107571,0.00005377817,0.00000757404,0.0002555114,0.00004636792,0.00001184403],"category_scores_gemma":[0.00007546776,0.0001149699,0.00009292902,0.0001467427,0.0001265823,0.0000033361,0.0000990442,0.0002490826,0.000005584985],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003178694,"about_ca_system_score_gemma":0.00004121927,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002641647,"about_ca_topic_score_gemma":0.0000946487,"domain_scores_codex":[0.9989907,0.00004969314,0.0003555333,0.0001911708,0.0001497099,0.0002632011],"domain_scores_gemma":[0.9992812,0.00001650464,0.0002922959,0.0002073997,0.00006633822,0.0001362096],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.004043858,0.000990895,0.4453019,0.00004350372,0.000431763,0.003534561,0.0001007942,0.0004211279,0.436737,0.00007331493,0.05646387,0.0518574],"study_design_scores_gemma":[0.0005296559,0.00199466,0.8172354,0.000002690286,0.00001564386,0.00369317,0.000005370126,0.000001810623,0.01288775,0.000008317953,0.1635003,0.0001253234],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939475,0.0002404677,0.0003316531,0.004524929,0.0003269419,0.00005567931,0.000006738981,0.000003013353,0.0005630444],"genre_scores_gemma":[0.9835893,0.000566731,0.0001805973,0.01551444,0.0000802609,4.443581e-7,0.0000145726,0.00002026154,0.00003340239],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4238493,"threshold_uncertainty_score":0.4688338,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004926980817209911,"score_gpt":0.2216679318510605,"score_spread":0.2167409510338506,"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."}}