{"id":"W2619882435","doi":"10.1212/nxg.0000000000000148","title":"<i>ARHGEF9</i> disease","year":2017,"lang":"en","type":"article","venue":"Neurology Genetics","topic":"Congenital Ear and Nasal Anomalies","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Toronto","funders":"National Institute of Neurological Disorders and Stroke; Science and Engineering Research Board; Ontario Genomics; Indian Council of Medical Research; University of Mysore; National Institutes of Health; Hospital for Sick Children; Autism Speaks; University of Toronto; Canadian Institutes of Health Research; Genome Canada; Ontario Genomics Institute; Government of Ontario","keywords":"Intellectual disability; Epilepsy; Loss function; Phenotype; Exon; Mutation; Facial dysmorphism; Genetics; Disease; Medicine; Genetic testing; Pediatrics; Gene; Biology; Psychiatry; Pathology","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":[0.0001614896,0.0008232339,0.0002763196,0.0008608764,0.000330148,0.000321118,0.0003980488,0.0004819517,0.008877844],"category_scores_gemma":[0.0004011771,0.00008383232,0.000168426,0.0004875851,0.000305174,0.0002178452,0.0002033806,0.0002038514,0.001679502],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001918677,"about_ca_system_score_gemma":0.0002012151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004264141,"about_ca_topic_score_gemma":0.0006202512,"domain_scores_codex":[0.9998474,0.00001512327,0.0000217762,0.00006193196,0.00002512387,0.00002852566],"domain_scores_gemma":[0.9998221,0.00004372032,0.00007073192,0.000008480261,0.00002230747,0.00003281084],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001190135,0.0002460915,0.358323,0.001482254,0.0002676493,0.2532388,0.0008863576,0.0004939104,0.1710926,0.002892499,0.03131667,0.1785702],"study_design_scores_gemma":[0.0001211366,0.0002928454,0.1901582,0.0003315703,0.000209344,0.7289131,0.0002628434,0.0003479247,0.0263095,0.0006962614,0.05232861,0.00002864325],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9260849,0.01465739,0.004023096,0.001273319,0.000307239,0.0002480365,0.007165438,0.0004658241,0.04577472],"genre_scores_gemma":[0.9864847,0.001867043,0.003488163,0.0005097961,0.0002543123,0.00004393525,0.001776152,0.00005451476,0.00552132],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008877844,"threshold_uncertainty_score":0.02969933,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02457271083163875,"score_gpt":0.2894440906120753,"score_spread":0.2648713797804365,"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."}}