{"id":"W2889330896","doi":"10.1097/mcd.0000000000000242","title":"UBE2A-related X-linked intellectual disability","year":2018,"lang":"en","type":"article","venue":"Clinical Dysmorphology","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"National Institute of Neurological Disorders and Stroke; Greenwood Genetic Center Foundation","keywords":"Medicine; Hypertelorism; Intellectual disability; Hypotonia; Palpebral fissure; Dermatology; Pediatrics; Facial dysmorphism; Short stature; Macrocephaly; hirsutism; Anatomy; Genetics; Phenotype; Pathology; Psychiatry","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001569014,0.0006139468,0.000278193,0.0008324384,0.000581981,0.0002382071,0.0001983997,0.0002605608,0.003909387],"category_scores_gemma":[0.0005663867,0.00009000138,0.0002074512,0.0003959904,0.0004564096,0.0001282171,0.0006088882,0.0002983433,0.0004424955],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002280383,"about_ca_system_score_gemma":0.0001580153,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001064538,"about_ca_topic_score_gemma":0.000951024,"domain_scores_codex":[0.9998745,0.00002097862,0.000009897358,0.0000353172,0.00002938058,0.00002999385],"domain_scores_gemma":[0.9998233,0.00004259655,0.00005055003,0.00001153217,0.0000130396,0.00005909559],"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":[0.001023734,0.0006871173,0.4058362,0.0002418774,0.000389711,0.3754346,0.001724598,0.001072814,0.1166222,0.003790472,0.003499774,0.089677],"study_design_scores_gemma":[0.0001019436,0.0005467017,0.4588433,0.00005518128,0.0001304949,0.5132173,0.0003724237,0.0007593352,0.01556696,0.0005650762,0.00981031,0.0000309489],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930344,0.000597169,0.0006901812,0.00006577101,0.00001112837,0.00002656254,0.0002068958,0.00004100143,0.005326889],"genre_scores_gemma":[0.9971413,0.0002545986,0.0003200406,0.00004389566,0.00001457777,0.00001050688,0.0001722572,0.000006492405,0.002036274],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003909387,"threshold_uncertainty_score":0.01307815,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03257107184461384,"score_gpt":0.3347848685317547,"score_spread":0.3022137966871408,"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."}}