{"id":"W2129061486","doi":"10.1051/medsci/2010262133","title":"Mutations<i>de novo</i>de<i>SYNGAP1</i>associées à la déficience intellectuelle non syndromique","year":2010,"lang":"fr","type":"article","venue":"médecine/sciences","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Centre Hospitalier de l’Université de Montréal","funders":"","keywords":"Philosophy","routes":{"ca_aff":true,"ca_fund":false,"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":[0.000161754,0.001078729,0.000299648,0.0009387482,0.0005147777,0.0004501452,0.0003718375,0.0005963853,0.005473234],"category_scores_gemma":[0.0007904138,0.0001839444,0.0005417241,0.0008097837,0.0006302723,0.0003311571,0.0005387222,0.000360278,0.0006868456],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002945028,"about_ca_system_score_gemma":0.0003625498,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004020734,"about_ca_topic_score_gemma":0.00333332,"domain_scores_codex":[0.9997327,0.00002257353,0.00003660067,0.0001037343,0.00005996579,0.00004450554],"domain_scores_gemma":[0.9996524,0.0000690321,0.0001786235,0.0000194191,0.00003980359,0.00004074712],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005092452,0.0001291009,0.3762426,0.0007487855,0.0005991061,0.283773,0.0017972,0.001252589,0.2342215,0.006134907,0.006300096,0.08829186],"study_design_scores_gemma":[0.00003970453,0.0002279993,0.4201244,0.0002693022,0.0002864121,0.5193048,0.000861591,0.001032768,0.03242865,0.001596865,0.02377185,0.00005575594],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9718657,0.003664324,0.005367737,0.0006967695,0.0001918315,0.00006101094,0.002206936,0.0002303724,0.01571536],"genre_scores_gemma":[0.9913765,0.001363112,0.001738264,0.0002596671,0.00005669583,0.00002823004,0.0009355933,0.00003763536,0.004204152],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005473234,"threshold_uncertainty_score":0.01830977,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01109563939511791,"score_gpt":0.2642348856174672,"score_spread":0.2531392462223492,"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."}}