{"id":"W2032113558","doi":"10.1007/s00381-005-1155-z","title":"Widened clinical spectrum of the Q128P MECP2 mutation in Rett syndrome","year":2005,"lang":"en","type":"article","venue":"Child s Nervous System","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":17,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Alberta","funders":"","keywords":"Rett syndrome; MECP2; Pediatrics; Ketogenic diet; Microcephaly; Medicine; Angelman syndrome; Ataxia; Neurodevelopmental disorder; Epilepsy; Autism; Psychology; Psychiatry; Genetics; Biology","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":[],"consensus_categories":[],"category_scores_codex":[0.0002248944,0.0001156316,0.0001726828,0.00003145149,0.00005324405,0.000008500897,0.0002389884,0.0001150963,0.000004617618],"category_scores_gemma":[0.00003159178,0.0000916572,0.0001140541,0.0001045403,0.0000524446,0.000002153139,0.0001008072,0.0000956736,0.00001184119],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001968642,"about_ca_system_score_gemma":0.00004584653,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002272782,"about_ca_topic_score_gemma":0.0002880681,"domain_scores_codex":[0.9988604,0.0001176226,0.0004428171,0.0002734479,0.0001342598,0.000171436],"domain_scores_gemma":[0.9994516,0.000008569966,0.0001386484,0.0003412596,0.00001916499,0.00004074974],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0007123631,0.00186991,0.4625648,0.001244536,0.0006580019,0.0001895731,0.001315463,0.01519859,0.4751466,0.003235249,0.00788565,0.02997926],"study_design_scores_gemma":[0.0009655831,0.0002096468,0.9445521,0.0001317011,0.00001685303,0.0002690088,0.0001924794,0.000259001,0.04978169,0.00002591522,0.003385874,0.0002101045],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960669,0.0004110229,0.00003304348,0.0007239293,0.000265733,0.0002585043,0.000006358978,0.000008225589,0.002226247],"genre_scores_gemma":[0.9992419,0.00004267199,0.0000969612,0.0002325681,0.0000448061,0.000009694219,0.00001580999,0.00001825537,0.0002972606],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4819874,"threshold_uncertainty_score":0.3737672,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007139737817349859,"score_gpt":0.231287121848475,"score_spread":0.2241473840311251,"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."}}