{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001283395,0.0005448267,0.001413295,0.007473684,0.0006429615,0.001444422,0.001347816,0.0007270676,0.03641637],"category_scores_gemma":[0.01215277,0.0003977912,0.0005647057,0.01733577,0.0001566432,0.001142171,0.001026546,0.0006339312,0.00892005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001059807,"about_ca_system_score_gemma":0.00288083,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01861634,"about_ca_topic_score_gemma":0.01968543,"domain_scores_codex":[0.9979351,0.0002875164,0.00102497,0.0003671232,0.0002960708,0.00008926068],"domain_scores_gemma":[0.9905689,0.002302732,0.002463133,0.000906608,0.003128925,0.0006297617],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"observational","study_design_scores_codex":[0.001190322,0.0001370901,0.05181823,0.006664439,0.0006866817,0.0005721393,0.0003938452,0.0003724387,0.0006483966,0.001939327,0.8638144,0.07176272],"study_design_scores_gemma":[0.0008608183,0.00008451074,0.2219234,0.003921631,0.0006747227,0.002275545,0.0004843599,0.0006069357,0.0005341243,0.00237492,0.7661168,0.000142217],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"dataset","genre_gemma":"empirical","genre_scores_codex":[0.006914501,0.003886689,0.0005027039,0.0003142812,0.00005189887,0.0002873911,0.979708,0.0002319253,0.008102559],"genre_scores_gemma":[0.02720669,0.006045987,0.002493141,0.000600331,0.0001037512,0.001999581,0.9583054,0.0001586611,0.003086532],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.03641637,"threshold_uncertainty_score":0.1218249,"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."}}