{"id":"W2045303230","doi":"10.1002/ajmg.b.32015","title":"Mutations in <i>MECP2</i> exon 1 in classical rett patients disrupt <i>MECP2_e1</i> transcription, but not transcription of <i>MECP2_e2</i>","year":2011,"lang":"en","type":"article","venue":"American Journal of Medical Genetics Part B Neuropsychiatric Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":28,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto; Hospital for Sick Children; Centre for Addiction and Mental Health","funders":"National Alliance for Research on Schizophrenia and Depression; International Rett Syndrome Foundation","keywords":"MECP2; Rett syndrome; Exon; Gene isoform; Biology; Genetics; Mutation; Messenger RNA; Molecular biology; Phenotype; Gene","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":[0.0001036195,0.0006377113,0.0002627379,0.000970177,0.0004111163,0.0003238419,0.0002590016,0.0008544112,0.0008866392],"category_scores_gemma":[0.000657278,0.000314411,0.0003551958,0.0003527617,0.0007078427,0.0001795269,0.0003672148,0.0003977904,0.0002094715],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00040893,"about_ca_system_score_gemma":0.0001637094,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001545093,"about_ca_topic_score_gemma":0.002920935,"domain_scores_codex":[0.9997252,0.00001776886,0.00003279271,0.0001255922,0.00005298113,0.00004567856],"domain_scores_gemma":[0.9998042,0.00005542365,0.00005811313,0.00001365613,0.00001365867,0.00005485495],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001162314,0.0001754294,0.2244169,0.0001332641,0.0001387823,0.05749751,0.001545757,0.000759663,0.692562,0.0002636717,0.0001931156,0.02115152],"study_design_scores_gemma":[0.0001090108,0.001190234,0.7600325,0.00002349971,0.0001797269,0.1459503,0.0005259633,0.0009601432,0.08940098,0.0002638625,0.001294699,0.00006907737],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994308,0.000127451,0.0002066238,0.00001679181,0.000002089516,0.0000089602,0.00003794967,0.00001110488,0.0001580868],"genre_scores_gemma":[0.9988731,0.0001084793,0.0006349846,0.00003131804,0.000006657041,0.000008677939,0.0000800856,0.000006683561,0.0002500718],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001545093,"threshold_uncertainty_score":0.003072143,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01451898134246272,"score_gpt":0.2380873164918267,"score_spread":0.2235683351493639,"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."}}