{"id":"W1983631017","doi":"10.1016/j.clinbiochem.2014.07.037","title":"Continuous gene deletion syndrome in two families involving OTC, RPGR and TSPAN7 genes, presenting as ornithine transcarbamylase deficiency","year":2014,"lang":"en","type":"article","venue":"Clinical Biochemistry","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba; Stollery Children's Hospital","funders":"","keywords":"Transplantation; Medicine; Internal medicine; Galectin; Angiogenesis; Gastroenterology; Immunology","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":[0.000265788,0.002864819,0.0009659707,0.002365923,0.001109898,0.0008857226,0.001317776,0.002287279,0.004969486],"category_scores_gemma":[0.002141203,0.0007646176,0.0007606782,0.001891873,0.002222089,0.0005255207,0.001327905,0.001150341,0.0007543917],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005051842,"about_ca_system_score_gemma":0.0008273464,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00292379,"about_ca_topic_score_gemma":0.001357676,"domain_scores_codex":[0.9993041,0.00009407738,0.00008820365,0.0002271237,0.0001324447,0.0001541525],"domain_scores_gemma":[0.9981173,0.0007871086,0.0003456217,0.0001105926,0.000121493,0.0005178294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005823598,0.0001052022,0.01369021,0.00006930513,0.00007334846,0.948562,0.000561866,0.0002429606,0.03167161,0.0007387072,0.0003191503,0.003383287],"study_design_scores_gemma":[0.0001754556,0.0001991032,0.02353593,0.00002193606,0.0001698354,0.9661512,0.0003407346,0.000477078,0.007371887,0.0003280579,0.001188355,0.0000405096],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956825,0.0005314799,0.001052514,0.0002239076,0.00005531616,0.00003006805,0.0003114858,0.00006192517,0.002050821],"genre_scores_gemma":[0.9971775,0.0002142318,0.000957734,0.00008330464,0.00009502129,0.00002229472,0.0002452269,0.00003514645,0.00116953],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004969486,"threshold_uncertainty_score":0.01662457,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01690231071214401,"score_gpt":0.3321878755446696,"score_spread":0.3152855648325256,"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."}}