{"id":"W2747477247","doi":"10.1002/ccr3.1139","title":"Developmental progression of intellectual disability, autism, and epilepsy in a child with an <scp>IQSEC</scp>2 gene mutation","year":2017,"lang":"en","type":"article","venue":"Clinical Case Reports","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"North York General Hospital; University of Toronto","funders":"","keywords":"Autism; Medicine; Intellectual disability; Epilepsy; Mutation; Pediatrics; Psychiatry; Infantile autism; Developmental disorder; Gene; Genetics","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":[],"consensus_categories":[],"category_scores_codex":[0.0004733612,0.0001480383,0.0002142726,0.00002242469,0.000151172,0.00003326123,0.00007266155,0.0001497922,0.000003740966],"category_scores_gemma":[0.0009647587,0.0001239126,0.0000452282,0.00003616226,0.0004716406,0.000009560395,0.000223411,0.000122529,5.110787e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009725505,"about_ca_system_score_gemma":0.0001008209,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003441691,"about_ca_topic_score_gemma":0.0003129896,"domain_scores_codex":[0.9985003,0.00007304277,0.0005844908,0.0005379622,0.0001297355,0.0001744551],"domain_scores_gemma":[0.9991128,0.00004907056,0.0003241522,0.0003404332,0.00003830017,0.0001351973],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002000276,0.001180262,0.9023916,0.00008212293,0.00007324776,0.01433755,0.0005196236,0.00001374853,0.02006844,0.00000748936,0.00007375639,0.06105218],"study_design_scores_gemma":[0.0008456333,0.001372405,0.9384876,0.0000630838,0.00002012059,0.02811087,0.0003279755,0.00005999235,0.02997795,0.0001002537,0.0005023866,0.0001317347],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989935,0.0001308005,0.00005094043,0.00003852466,0.00008004143,0.0003108462,0.000005195232,0.000005643736,0.0003844735],"genre_scores_gemma":[0.9974193,0.0001469916,0.002256043,0.0000335022,0.00001714251,0.00002085277,0.00006379759,0.00001830768,0.00002405627],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06092044,"threshold_uncertainty_score":0.5053011,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02784382504181679,"score_gpt":0.3367865580367647,"score_spread":0.3089427329949479,"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."}}