{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0006301801,0.0004213802,0.000659039,0.0004310157,0.00005569359,0.00001888143,0.0008723909,0.0002627327,0.00004658285],"category_scores_gemma":[0.0001579627,0.0004226701,0.0003017264,0.0009331799,0.0005752684,0.00001316293,0.0001033263,0.0005937376,0.000004357761],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002964873,"about_ca_system_score_gemma":0.0004548998,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003830786,"about_ca_topic_score_gemma":0.0002115553,"domain_scores_codex":[0.9950494,0.0004610932,0.001988486,0.000578441,0.001320918,0.000601696],"domain_scores_gemma":[0.997963,0.0000461428,0.000773198,0.0004498724,0.0002980821,0.0004697508],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002494271,0.00701657,0.4362214,0.0002043916,0.0002251456,0.0001641264,0.002958998,0.001579545,0.4292096,0.00008373016,0.002431762,0.1174105],"study_design_scores_gemma":[0.008596594,0.009016661,0.9061257,0.0001717523,0.0002257181,0.0001778083,0.001097235,0.0004353612,0.0623339,0.0002968743,0.01045774,0.001064693],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953012,0.001193387,0.001248479,0.0005086903,0.001119643,0.000336783,0.00004246559,0.000006237977,0.0002430848],"genre_scores_gemma":[0.9865075,0.008896331,0.003205033,0.001123765,0.0001107952,0.00001457927,0.00004028961,0.00007437725,0.00002727166],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4699043,"threshold_uncertainty_score":0.9998225,"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."}}