{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.001256042,0.0003374275,0.0002295785,0.0001095061,0.0006586347,0.0002281877,0.0008102081,0.0003734043,0.0002283171],"category_scores_gemma":[0.0005334152,0.0003438913,0.0001430712,0.0005721498,0.002062782,0.00001802168,0.0002743935,0.0004259484,0.00007670061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003425727,"about_ca_system_score_gemma":0.001013169,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001236862,"about_ca_topic_score_gemma":0.0002356453,"domain_scores_codex":[0.9975234,0.0001810824,0.0003664735,0.0007858345,0.0002983199,0.0008449453],"domain_scores_gemma":[0.9990674,0.0001831601,0.0001448925,0.0002967603,0.00009405143,0.0002137533],"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":[0.0000153339,0.0004543208,0.01833645,0.00004714678,0.00002530229,0.00002258118,0.0004981154,0.001312504,0.9702863,0.001628932,0.003622206,0.003750865],"study_design_scores_gemma":[0.002166172,0.00249565,0.1272559,0.0002106404,0.0001152358,0.00185334,0.002356938,0.01093654,0.6335045,0.006031122,0.2111702,0.001903743],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9695073,0.001969678,0.002843634,0.002912339,0.001109793,0.0002304794,0.00003570243,0.00002004896,0.02137103],"genre_scores_gemma":[0.9845079,0.001704917,0.008543128,0.001087907,0.0000942667,0.00002874289,0.0000193767,0.00003215735,0.003981628],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3367818,"threshold_uncertainty_score":0.9999013,"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."}}