{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001394061,0.0004552562,0.0001931548,0.0006342448,0.0001209433,0.0002232679,0.0001161099,0.0002679634,0.001589931],"category_scores_gemma":[0.0003536617,0.000104331,0.0001227654,0.0001819895,0.0002633028,0.000117478,0.0002947533,0.0002329332,0.0002566972],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00009004833,"about_ca_system_score_gemma":0.00006528303,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004379161,"about_ca_topic_score_gemma":0.0004196577,"domain_scores_codex":[0.999863,0.00002571232,0.00001447274,0.00004216617,0.00003575526,0.00001888338],"domain_scores_gemma":[0.9997972,0.00003388984,0.00008158844,0.00001254813,0.00001907454,0.00005574215],"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":[0.0009720892,0.00009594396,0.3718694,0.00009472341,0.0001181385,0.004981888,0.0003030591,0.000407974,0.6007297,0.0001506645,0.0003641478,0.01991225],"study_design_scores_gemma":[0.00001067479,0.0002750255,0.9456421,0.00001083573,0.00004415579,0.01550833,0.000107187,0.0005229126,0.03738292,0.0000894319,0.0003981443,0.000008229018],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986762,0.0003594365,0.0003586188,0.00003197957,0.000003097691,0.000003681262,0.0001506752,0.00002096737,0.0003952644],"genre_scores_gemma":[0.9992083,0.0001381499,0.0002195305,0.0000223885,0.000005172024,0.000002784154,0.0001637538,0.000006703451,0.0002333471],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001589931,"threshold_uncertainty_score":0.00531882,"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."}}