{"id":"W2170441848","doi":"10.1038/ejhg.2010.183","title":"Intellectual disability without epilepsy associated with STXBP1 disruption","year":2011,"lang":"en","type":"article","venue":"European Journal of Human Genetics","topic":"Cellular transport and secretion","field":"Biochemistry, Genetics and Molecular Biology","cited_by":94,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hôpital Rivière-des-Prairies; Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal","funders":"Canadian Institutes of Health Research; Genome Canada; Institute of Genetics; McGill University","keywords":"Epilepsy; Missense mutation; Intellectual disability; Medicine; Encephalopathy; Mutation; Bioinformatics; Biology; Pediatrics; Genetics; Psychiatry; 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":[],"consensus_categories":[],"category_scores_codex":[0.0005923541,0.0001496717,0.0001619688,0.00003188863,0.00008467585,0.00001767097,0.0002212455,0.00004365317,0.0001242199],"category_scores_gemma":[0.00005191668,0.0001205292,0.000116681,0.00005793558,0.0002098469,0.000005099118,0.00003207084,0.0001684713,0.000007140187],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001758208,"about_ca_system_score_gemma":0.00002662351,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000001285705,"about_ca_topic_score_gemma":0.00003524431,"domain_scores_codex":[0.998811,0.000267645,0.000400597,0.000170633,0.000182416,0.0001677238],"domain_scores_gemma":[0.999204,0.000006891575,0.0002752425,0.0002280252,0.0001755828,0.0001101918],"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":[0.0005964285,0.0005407363,0.334343,0.00001642305,0.0002637017,0.00009707951,0.002793718,0.00005542545,0.6581773,0.00002088982,0.0001741118,0.002921299],"study_design_scores_gemma":[0.00235166,0.008052496,0.8915036,0.0001070278,0.0002485591,0.0001343417,0.0005080567,0.00003673941,0.08935013,0.00007275068,0.007105012,0.0005296074],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9811507,0.0002603145,0.01589209,0.000007410227,0.00009519362,0.00007413731,0.000004564174,0.000006950771,0.00250868],"genre_scores_gemma":[0.9986559,0.00008938606,0.0005810668,0.00003009423,0.000237018,3.70375e-7,0.0001840043,0.0000391923,0.000182986],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5688271,"threshold_uncertainty_score":0.4915038,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03043159354259629,"score_gpt":0.2378111860424651,"score_spread":0.2073795924998688,"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."}}