{"id":"W3108094282","doi":"10.1186/s12881-020-01173-0","title":"Case report: progressive familial intrahepatic cholestasis type 3 with compound heterozygous ABCB4 variants diagnosed 15 years after liver transplantation","year":2020,"lang":"en","type":"article","venue":"BMC Medical Genetics","topic":"Drug Transport and Resistance Mechanisms","field":"Medicine","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta; University of Alberta Hospital; Alberta Hospital Edmonton","funders":"Canadian Institutes of Health Research; Canadian Liver Foundation","keywords":"Progressive familial intrahepatic cholestasis; Liver transplantation; Cholestasis; Transplantation; Ursodeoxycholic acid; Intrahepatic bile ducts; Gastroenterology; Cirrhosis; Internal medicine; Primary biliary cirrhosis; Medicine; Liver disease; Compound heterozygosity; Autoimmune hepatitis; Pathology; Bile duct; Biology; Hepatitis; Phenotype; Genetics; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0003411101,0.002069223,0.001356961,0.002199991,0.002849858,0.001125299,0.001053056,0.004445988,0.002577192],"category_scores_gemma":[0.002007373,0.0009290993,0.001563519,0.001370257,0.001420991,0.001444507,0.001425771,0.003134119,0.0005889609],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001218424,"about_ca_system_score_gemma":0.0009109162,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003005934,"about_ca_topic_score_gemma":0.003199457,"domain_scores_codex":[0.9993607,0.00005295698,0.00006964502,0.0002135235,0.00007476945,0.0002282808],"domain_scores_gemma":[0.9987135,0.0002451308,0.0002977444,0.00007933118,0.00008072762,0.0005835732],"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":[0.00002346019,0.00002393119,0.01022927,0.000008829589,0.000007510911,0.9887046,0.0001085017,0.00003652653,0.000230778,0.00006840226,0.0001280828,0.0004301218],"study_design_scores_gemma":[0.000008232357,0.00003904128,0.00438385,0.000007104381,0.000007647954,0.9951029,0.00005845401,0.00007139887,0.0001005651,0.00006631519,0.0001480744,0.00000646146],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9878119,0.001993221,0.002152711,0.002672921,0.0004439861,0.000124176,0.0002815138,0.0001248037,0.004394767],"genre_scores_gemma":[0.9968513,0.0005340297,0.0006927976,0.0005597273,0.0005310053,0.00002034824,0.0001232396,0.00001793234,0.0006697141],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004445988,"threshold_uncertainty_score":0.008840322,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02243356395510153,"score_gpt":0.2577478735028261,"score_spread":0.2353143095477246,"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."}}