{"id":"W2167600834","doi":"10.1136/jmg.39.2.132","title":"Functional characterisation of <i>MeCP2</i> mutations found in male patients with X linked mental retardation","year":2002,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":20,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research; Medical Research Council; Retina France; Alberta Children's Hospital Foundation; Fondation pour la Recherche Médicale; Institut National de la Santé et de la Recherche Médicale; Children's Hospital Foundation; University of Calgary","keywords":"MECP2; Rett syndrome; Biology; Mutant; Genetics; Mutation; Heterochromatin; Neurodevelopmental disorder; Molecular biology; Gene; Chromatin; Phenotype","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00010798,0.0003693716,0.0002328535,0.0007523058,0.0002074117,0.0002298753,0.0001805082,0.0003713904,0.002755939],"category_scores_gemma":[0.0004395931,0.00009581234,0.0002294743,0.00025977,0.0002297296,0.00006602991,0.0001170207,0.0001673316,0.0005062437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001609337,"about_ca_system_score_gemma":0.00009157971,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002016132,"about_ca_topic_score_gemma":0.001256947,"domain_scores_codex":[0.9998776,0.00001096979,0.00001663795,0.000032126,0.00003799227,0.00002458357],"domain_scores_gemma":[0.9998643,0.00003873196,0.00004087507,0.000006055527,0.00001652617,0.000033416],"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":[0.001373201,0.0001459045,0.3012516,0.0001221282,0.0001063538,0.0544234,0.0009220766,0.0003592507,0.6169111,0.0003892649,0.0007089833,0.02328684],"study_design_scores_gemma":[0.00005797868,0.0007224181,0.8614407,0.00002996979,0.0001001364,0.07747961,0.0003050526,0.0006468535,0.05566198,0.0000764237,0.003456576,0.00002226692],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982228,0.000385808,0.0002052285,0.0000449474,0.00001032405,0.000008853614,0.0003775256,0.00001350931,0.000731042],"genre_scores_gemma":[0.9985864,0.0001854284,0.0002523889,0.00004948615,0.00001379404,0.000006726641,0.0003103048,0.000008441637,0.0005869604],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002755939,"threshold_uncertainty_score":0.009219527,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01371771672689148,"score_gpt":0.2212861555955896,"score_spread":0.2075684388686981,"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."}}