{"id":"W2057343637","doi":"10.1136/jmg.2004.027730","title":"Rett syndrome: clinical review and genetic update","year":2005,"lang":"en","type":"review","venue":"Journal of Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":213,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children","funders":"","keywords":"Rett syndrome; MECP2; Neurodevelopmental disorder; Biology; Phenotype; Mutation; Genetics; Intellectual disability; Repressor; Gene; Xenopus; Neuroscience; Gene expression","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0004033494,0.001362637,0.002339841,0.004560688,0.0003148919,0.0009964192,0.00157694,0.00143567,0.006297181],"category_scores_gemma":[0.0009224473,0.0003596962,0.0005695848,0.003415606,0.0004720188,0.001557139,0.000672005,0.001520453,0.005231923],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006274383,"about_ca_system_score_gemma":0.0009117603,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001353433,"about_ca_topic_score_gemma":0.00303099,"domain_scores_codex":[0.9997998,0.00002775549,0.00004667796,0.00003804813,0.00006477836,0.00002288364],"domain_scores_gemma":[0.9995727,0.0001515131,0.0000796062,0.00001276248,0.000112588,0.00007084556],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00007747972,0.00007107375,0.0004828081,0.00881869,0.00009603146,0.004516194,0.00006259407,0.0003417612,0.0009749776,0.0007230152,0.1093196,0.8745158],"study_design_scores_gemma":[0.00004741925,0.00008989414,0.002437169,0.005155333,0.0002450891,0.03981734,0.0001245599,0.0001209464,0.0002798628,0.00117151,0.9504691,0.00004182296],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.0002426891,0.9969501,0.0001689657,0.0005166879,0.0006791596,0.000008600653,0.00005228176,0.00002175539,0.001359803],"genre_scores_gemma":[0.001393994,0.9948729,0.0005011036,0.0006459681,0.001105131,0.00001490054,0.0001638717,0.000005038748,0.001297048],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.006297181,"threshold_uncertainty_score":0.02106613,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04158685686900118,"score_gpt":0.3848466867864292,"score_spread":0.343259829917428,"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."}}