{"id":"W2790423420","doi":"10.1002/humu.23409","title":"MeCP2 AT-Hook1 mutations in patients with intellectual disability and/or schizophrenia disrupt DNA binding and chromatin compaction in vitro","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; University of Toronto; Centre for Addiction and Mental Health","funders":"Ontario Rett Syndrome Association; University of Toronto; Centre for Addiction and Mental Health Foundation","keywords":"MECP2; Rett syndrome; Missense mutation; Biology; Genetics; Exome sequencing; Mutation; Gene; Phenotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009270774,0.000604442,0.0002005298,0.0004339365,0.0002761792,0.0001645836,0.0001763073,0.0004184285,0.001368008],"category_scores_gemma":[0.0003216895,0.0001443245,0.0002275579,0.0002335693,0.0002787619,0.00009252509,0.0002971055,0.0002118938,0.0003096965],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002113456,"about_ca_system_score_gemma":0.0001223106,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001796014,"about_ca_topic_score_gemma":0.002482345,"domain_scores_codex":[0.9998698,0.00001997505,0.00001647495,0.00003812017,0.00003235096,0.00002330641],"domain_scores_gemma":[0.9998834,0.00003931074,0.00004255079,0.000008174482,0.000005355014,0.00002111514],"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":[0.000485288,0.00005545576,0.08254673,0.0001551099,0.0001013913,0.02938916,0.0003094472,0.0003693126,0.8747503,0.0001598138,0.0003200554,0.01135803],"study_design_scores_gemma":[0.00008400854,0.0004683078,0.6229753,0.00004947923,0.0001665344,0.1228568,0.0005395749,0.001253763,0.2470175,0.0003881192,0.004170183,0.00003046014],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976493,0.0006180211,0.000624328,0.00009162191,0.00000977538,0.00001021521,0.0003728717,0.00003119191,0.0005927977],"genre_scores_gemma":[0.9988841,0.0002230913,0.0004793353,0.0000319991,0.000004294764,0.00000391505,0.0001818875,0.000004591716,0.0001866766],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001796014,"threshold_uncertainty_score":0.004576445,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01060763494226521,"score_gpt":0.2481718058749225,"score_spread":0.2375641709326572,"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."}}