{"id":"W4309340251","doi":"10.1016/j.jhepr.2022.100626","title":"Genotype-phenotype relationships of truncating mutations, p.E297G and p.D482G in bile salt export pump deficiency","year":2022,"lang":"en","type":"article","venue":"JHEP Reports","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Canada Research Chairs; University of Toronto; University Health Network; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Bile Salt Export Pump; Genotype; Phenotype; Mutation; Enterohepatic circulation; Internal medicine; Compound heterozygosity; Gastroenterology; Progressive familial intrahepatic cholestasis; Endocrinology; Biology; Medicine; Liver transplantation; Bile acid; Genetics; Transplantation; Gene","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":[0.000390068,0.0002888845,0.000231644,0.000830737,0.0002398181,0.0003120688,0.0001942926,0.0004264942,0.002192729],"category_scores_gemma":[0.001727745,0.0001235804,0.000217236,0.0004420859,0.0002417193,0.0001951472,0.0003287629,0.0002825718,0.0003500049],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001468723,"about_ca_system_score_gemma":0.00009394143,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005385905,"about_ca_topic_score_gemma":0.0006097717,"domain_scores_codex":[0.9996251,0.00008738312,0.0000660965,0.0001150649,0.00005754087,0.0000487598],"domain_scores_gemma":[0.9989605,0.0004953917,0.0002963174,0.00005618449,0.00004805632,0.0001435414],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0005550516,0.00004027963,0.9915527,0.00001129966,0.00004909112,0.001860502,0.00006570709,0.0001330689,0.002522516,0.00003915076,0.0001443995,0.003026225],"study_design_scores_gemma":[0.00004027784,0.0002645354,0.9811802,0.0000086192,0.00005733891,0.01625962,0.0001427701,0.0004578265,0.001117257,0.000115994,0.0003463537,0.000009159355],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9995337,0.00005937642,0.00005591805,0.000008905931,0.000001356486,0.000003291115,0.000186886,0.000001804618,0.000148824],"genre_scores_gemma":[0.9995632,0.00002534039,0.00007789282,0.000007994021,0.000002820073,0.000004446255,0.0002637969,0.000001960789,0.00005247457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002192729,"threshold_uncertainty_score":0.007335424,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02277527426349955,"score_gpt":0.2681845364706287,"score_spread":0.2454092622071292,"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."}}