{"id":"W2319513920","doi":"10.1097/mpg.0000000000000556","title":"A Novel Citrin Deficiency Mutation in a Cholestatic Infant","year":2014,"lang":"en","type":"letter","venue":"Journal of Pediatric Gastroenterology and Nutrition","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Medicine; Neonatal cholestasis; Citrullinemia; Cholestasis; Internal medicine; Methionine; Neonatal hepatitis; Endocrinology; Citrulline; Newborn screening; Gastroenterology; Biliary atresia; Arginine; Pediatrics; Amino acid; Biochemistry; Liver transplantation; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0008189298,0.001608473,0.0014103,0.001175285,0.001043976,0.001150044,0.002483926,0.007702003,0.002166027],"category_scores_gemma":[0.005572992,0.0006971761,0.0008121882,0.0006753365,0.001170766,0.00126173,0.0008633355,0.00516404,0.0006475485],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001062614,"about_ca_system_score_gemma":0.000453805,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001336918,"about_ca_topic_score_gemma":0.001792938,"domain_scores_codex":[0.9992048,0.0001402195,0.0001388381,0.0002036844,0.0001353578,0.0001770794],"domain_scores_gemma":[0.9968657,0.001518754,0.0003670288,0.0001012307,0.0003663626,0.000780897],"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":[0.0001478942,0.00004760582,0.003552492,0.0001295838,0.00003531003,0.9753097,0.0001673417,0.00009768174,0.001433077,0.0002706174,0.01562886,0.003179901],"study_design_scores_gemma":[0.0001151575,0.0002580149,0.01178282,0.0001839487,0.000136689,0.9625514,0.0003097508,0.001763576,0.001659955,0.0006432816,0.02053251,0.00006289801],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.6149534,0.03906097,0.007006784,0.2474681,0.07164118,0.0003864684,0.001339759,0.0008985874,0.01724475],"genre_scores_gemma":[0.8750623,0.006521849,0.00332248,0.04415918,0.06336161,0.00008380399,0.0002891498,0.000147929,0.007051771],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007702003,"threshold_uncertainty_score":0.007709861,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007577470594443841,"score_gpt":0.2267786981900148,"score_spread":0.219201227595571,"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."}}