{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004167772,0.0001885971,0.0002508604,0.00002055494,0.000104901,0.00001126008,0.000336719,0.0004017085,0.0008453284],"category_scores_gemma":[0.001279653,0.000175666,0.0001726815,0.0001289574,0.001713097,0.000001692382,0.0003355879,0.0002199914,0.0007060341],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000009160786,"about_ca_system_score_gemma":0.00006730272,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007532914,"about_ca_topic_score_gemma":0.00004429321,"domain_scores_codex":[0.9979922,0.0002369205,0.0006160944,0.0007044474,0.00008987525,0.0003604892],"domain_scores_gemma":[0.9990103,0.0001143412,0.00009219027,0.0005354632,0.00009313154,0.0001546279],"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":[0.001220114,0.002006127,0.3218582,0.00002209724,0.0003863065,0.00003256526,0.0002713382,0.000009211431,0.5131023,0.0003825167,0.09778345,0.06292576],"study_design_scores_gemma":[0.001855372,0.00318642,0.8114932,0.00000591756,0.00003353355,0.00005466176,0.0000675143,0.00008874565,0.0147513,0.00119562,0.1667809,0.0004868655],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935616,0.0001206736,0.0002963597,0.0005678717,0.001241926,0.0001791172,0.00001042758,0.00002829709,0.003993678],"genre_scores_gemma":[0.9959251,0.0001692994,0.0005382064,0.001945042,0.0001643378,0.00001209192,0.0001161936,0.00002864385,0.001101106],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.498351,"threshold_uncertainty_score":0.9255753,"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."}}