{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002697076,0.003888841,0.0008854247,0.002730947,0.0009652214,0.000705569,0.001132643,0.00159607,0.009321182],"category_scores_gemma":[0.001359122,0.0003513788,0.0007574712,0.001466219,0.002607262,0.0006303116,0.001583702,0.001193244,0.001396404],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003566915,"about_ca_system_score_gemma":0.001040226,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002393233,"about_ca_topic_score_gemma":0.002071863,"domain_scores_codex":[0.9996156,0.00003795501,0.00005821881,0.00009500339,0.00008275319,0.0001105304],"domain_scores_gemma":[0.998813,0.0003248234,0.000437723,0.000100308,0.00005614578,0.0002680043],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002167952,0.0004691458,0.02524436,0.0003155017,0.0002702902,0.8641287,0.0004435631,0.0005554684,0.08646016,0.002236727,0.002045532,0.01566258],"study_design_scores_gemma":[0.0002892588,0.000618273,0.1087133,0.00008877446,0.00032223,0.8633003,0.0003270572,0.000934543,0.01709346,0.003198764,0.005027124,0.00008695361],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9763402,0.0007917467,0.001896035,0.00109435,0.00021354,0.0001070659,0.002495292,0.0002631898,0.0167985],"genre_scores_gemma":[0.9921828,0.0005857737,0.0009270433,0.0001795675,0.0002011067,0.0000419883,0.001491544,0.00006715389,0.00432315],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009321182,"threshold_uncertainty_score":0.03118247,"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."}}