{"id":"W2793399690","doi":"10.1093/jcag/gwy009.337","title":"A337 KABUKI SYNDROME: A NEW ADDITION TO THE DIFFERENTIAL DIAGNOSIS OF LOW-GGT NEONATAL CHOLESTASIS","year":2018,"lang":"en","type":"article","venue":"Journal of the Canadian Association of Gastroenterology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital","funders":"","keywords":"Medicine; Cholestasis; Hypotonia; Gastroenterology; Jaundice; Internal medicine; Neonatal cholestasis; Pediatrics; Liver biopsy; Biliary atresia; Endocrinology; Biopsy; Liver transplantation","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":[0.0001984998,0.001404906,0.0005638414,0.002163906,0.0005755677,0.0005921069,0.0006048186,0.001385493,0.002841933],"category_scores_gemma":[0.001740548,0.0004425369,0.0004128989,0.001109849,0.0005028328,0.0008349877,0.0009444139,0.001095359,0.0008545385],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003038354,"about_ca_system_score_gemma":0.0004306136,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0013573,"about_ca_topic_score_gemma":0.001392921,"domain_scores_codex":[0.9997539,0.00003503971,0.00004445562,0.00004481899,0.00006337065,0.00005837888],"domain_scores_gemma":[0.9994245,0.0001784843,0.000113221,0.00003149312,0.00007463985,0.000177777],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00006084303,0.00001870329,0.02794414,0.00007267701,0.00001871619,0.9519029,0.0001856503,0.0001581795,0.005902685,0.0007424615,0.001691774,0.01130121],"study_design_scores_gemma":[0.000007286878,0.00001883929,0.008543706,0.00005580124,0.00001277762,0.9885401,0.00009812073,0.0002003521,0.0005752827,0.0003596,0.001578952,0.000009181971],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9603122,0.01251684,0.006964387,0.003206722,0.0003426037,0.0001009222,0.0005052638,0.0003972813,0.01565362],"genre_scores_gemma":[0.9877136,0.005426581,0.003481949,0.0006601578,0.0003287766,0.00004164085,0.0003520095,0.00006685395,0.001928437],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002841933,"threshold_uncertainty_score":0.009507179,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004192921228767368,"score_gpt":0.2012297235647181,"score_spread":0.1970368023359507,"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."}}