{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001475339,0.0002487221,0.0001870645,0.0002325857,0.0002716501,0.0002280746,0.0001287793,0.0002615773,0.002686954],"category_scores_gemma":[0.0005777472,0.00008042328,0.0001384811,0.0002743521,0.0002617325,0.0002329827,0.0002676604,0.0002193916,0.0003335417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001257304,"about_ca_system_score_gemma":0.0001187478,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008235878,"about_ca_topic_score_gemma":0.001000508,"domain_scores_codex":[0.9999046,0.00001005801,0.00001665106,0.00002816562,0.00001352645,0.00002702077],"domain_scores_gemma":[0.9995791,0.00007117365,0.0002020251,0.00001862333,0.00004376037,0.00008534732],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002985153,0.00007125567,0.9591866,0.00004260608,0.00002274893,0.0231892,0.0002851023,0.00008590904,0.00944643,0.0001626327,0.0004505168,0.006758503],"study_design_scores_gemma":[0.00001614894,0.0002550631,0.889929,0.00002058804,0.00001433031,0.1070999,0.000337547,0.0001446953,0.001295898,0.0001114998,0.0007690463,0.000006150483],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982272,0.0001489895,0.0001951692,0.00003638527,0.000003717585,0.000009854984,0.0002501953,0.000007913734,0.001120648],"genre_scores_gemma":[0.9992582,0.00007762386,0.0001856941,0.00004966615,0.000008643516,0.000004535221,0.0002063428,0.000002564348,0.0002066246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002686954,"threshold_uncertainty_score":0.008988738,"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."}}