{"id":"W2560289556","doi":"10.1038/srep38590","title":"From Function to Phenotype: Impaired DNA Binding and Clustering Correlates with Clinical Severity in Males with Missense Mutations in MECP2","year":2016,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; University of Toronto; University Health Network; University of Victoria; Mount Sinai Hospital; Centre for Addiction and Mental Health","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Center for Advancing Translational Sciences; National Center for Research Resources; Rare Diseases Clinical Research Network; National Institutes of Health; Ontario Rett Syndrome Association; Civitan International; International Rett Syndrome Foundation","keywords":"MECP2; Missense mutation; Phenotype; Genetics; Rett syndrome; Biology; Gene; Mutation","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003062941,0.00009360387,0.00009848041,0.00007415651,0.00006215631,0.00004490442,0.00003681872,0.00005371811,0.000008605744],"category_scores_gemma":[0.00005864973,0.0000646757,0.0000149053,0.0001620373,0.0001082248,0.000007179095,0.00006192106,0.00003828674,0.000002739769],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000113809,"about_ca_system_score_gemma":0.00007151495,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004356802,"about_ca_topic_score_gemma":0.002347816,"domain_scores_codex":[0.9988967,0.00003269362,0.0002554376,0.0005507998,0.000107095,0.0001572987],"domain_scores_gemma":[0.9995833,0.00001438625,0.00007820105,0.0002160061,0.00003367981,0.00007444905],"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":[0.0001589352,0.00004656544,0.4178151,0.000004591298,0.00001145865,0.00009167869,0.0001551296,0.00008539962,0.5781723,5.808348e-7,0.0001196079,0.00333865],"study_design_scores_gemma":[0.0005520636,0.0001897486,0.970565,0.00009281151,0.000009959361,0.00006460918,0.0002769247,0.00006160867,0.02705473,0.0001784863,0.0007624225,0.0001916107],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986871,0.00003497742,0.0004857054,0.0001016594,0.0004497235,0.0001814306,0.000004037618,0.000006083815,0.00004926089],"genre_scores_gemma":[0.9987187,0.000009807774,0.000874053,0.00002743897,0.000008988984,0.00001164317,0.00004488991,0.00001064812,0.0002938432],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5527499,"threshold_uncertainty_score":0.2637399,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0134155976681283,"score_gpt":0.2484301122783729,"score_spread":0.2350145146102446,"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."}}