{"id":"W4388750229","doi":"10.1212/nxg.0000000000200105","title":"Adult Phenotype of <i>SYNGAP1</i> -DEE","year":2023,"lang":"fa","type":"article","venue":"Neurology Genetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; Centre for Addiction and Mental Health; University Health Network","funders":"National Institute on Deafness and Other Communication Disorders; National Institute of Mental Health; National Institute on Aging; University Health Network Foundation; Centers for Disease Control and Prevention; Multidisciplinary University Research Initiative; National Institute of Neurological Disorders and Stroke; Novo Nordisk; International Rett Syndrome Foundation; Eisai; Novo Nordisk Fonden; Dravet Syndrome Foundation; National Science Foundation; GW Pharmaceuticals; University of Toronto","keywords":"Phenotype; Virology; Biology; Genetics; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001330805,0.0003534258,0.0003814692,0.0001285183,0.0001118062,0.00001784748,0.0005414196,0.0005252638,0.00004802705],"category_scores_gemma":[0.0001505061,0.0003846583,0.000262658,0.0003387133,0.0003709947,0.000001791799,0.0005016931,0.0002374098,0.000241184],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000456433,"about_ca_system_score_gemma":0.0002446002,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001536434,"about_ca_topic_score_gemma":0.00004487955,"domain_scores_codex":[0.9977315,0.000168998,0.0005314011,0.0007125313,0.0002002704,0.0006553127],"domain_scores_gemma":[0.9983137,0.00005080896,0.0002318767,0.000883063,0.0003130629,0.000207484],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001096504,0.0006061986,0.03648337,0.0004445098,0.0005545913,0.0003507285,0.000270841,0.00430607,0.8745424,0.000759703,0.06340101,0.0171841],"study_design_scores_gemma":[0.00547179,0.01024666,0.1806252,0.00006009951,0.0009942707,0.0002512135,0.0002280664,0.004991243,0.2982508,0.002881685,0.4937183,0.002280672],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906313,0.004193485,0.00004499072,0.001090004,0.001738217,0.0002564378,0.0004141328,0.00003209898,0.001599316],"genre_scores_gemma":[0.98462,0.01083056,0.0001384122,0.002569748,0.0005546464,0.00001420458,0.000370202,0.00008812279,0.0008141531],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5762916,"threshold_uncertainty_score":0.9998605,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008325052780055728,"score_gpt":0.2321894688511776,"score_spread":0.2238644160711218,"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."}}