{"id":"W2787504356","doi":"10.1098/rsob.170216","title":"Rett syndrome: a neurological disorder with metabolic components","year":2018,"lang":"en","type":"review","venue":"Open Biology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":216,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of General Medical Sciences; Rett Syndrome Research Trust","keywords":"Rett syndrome; MECP2; Biology; Neuroscience; Neurological disorder; Phenotype; Bioinformatics; Neurodevelopmental disorder; Gene; Genetics; Central nervous system disease","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001700641,0.0005739615,0.001260559,0.00007581711,0.0001419447,0.0000698076,0.001455468,0.0005918406,0.000122049],"category_scores_gemma":[0.00003298735,0.0003861672,0.0002156058,0.0001987847,0.0003351131,0.000002805181,0.001509655,0.0002491417,0.0001835537],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005231735,"about_ca_system_score_gemma":0.0001803549,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002925821,"about_ca_topic_score_gemma":0.00005899684,"domain_scores_codex":[0.9974242,0.0003658083,0.000444692,0.001172416,0.00008897994,0.000503948],"domain_scores_gemma":[0.9988052,0.00001927094,0.000270899,0.0007218289,0.0000506155,0.0001321682],"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":[0.0003824358,0.0009123326,0.001564634,0.001816702,0.002074664,0.0001622148,0.00002191279,0.000001391648,0.0009952411,0.0008850374,0.0106992,0.9804842],"study_design_scores_gemma":[0.0004246646,0.001238721,0.0009072074,0.000191882,0.0001848939,0.0004214061,0.000001909334,5.440509e-7,0.000009376631,0.00003055835,0.9960644,0.0005244066],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.007465426,0.9887341,0.00003018272,0.00004721729,0.0002677738,0.001245567,0.0001162406,0.00001269668,0.002080802],"genre_scores_gemma":[0.001350545,0.9941658,0.0006744863,0.0004532793,0.00004227921,0.0002778821,0.00209162,0.00008674234,0.0008573974],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9853652,"threshold_uncertainty_score":0.999859,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04311033117153117,"score_gpt":0.3182430970511521,"score_spread":0.2751327658796209,"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."}}