{"id":"W1492802549","doi":"10.1111/j.1440-1746.2012.07290.x","title":"Novel splice‐site mutation in <scp><i>ATP8B1</i></scp> results in atypical <scp>P</scp>rogressive <scp>F</scp>amilial <scp>I</scp>ntrahepatic <scp>C</scp>holestasis <scp>T</scp>ype 1","year":2012,"lang":"en","type":"article","venue":"Journal of Gastroenterology and Hepatology","topic":"Pediatric Hepatobiliary Diseases and Treatments","field":"Medicine","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ottawa Hospital; Dalhousie University","funders":"IWK Health Centre","keywords":"Genetics; Progressive familial intrahepatic cholestasis; Frameshift mutation; Biology; Exon; Mutation; Penetrance; Medicine; Phenotype; Internal medicine; Gene; Liver transplantation; Transplantation","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":[0.0002167529,0.0008504482,0.0003277833,0.00076973,0.000466319,0.000309461,0.0004168084,0.001130749,0.002658068],"category_scores_gemma":[0.0006562583,0.0002659299,0.000383618,0.0003216251,0.0008237698,0.0001704524,0.0003979784,0.0006688595,0.0005551195],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00028782,"about_ca_system_score_gemma":0.0002180067,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007402936,"about_ca_topic_score_gemma":0.001078866,"domain_scores_codex":[0.999734,0.00003379533,0.00002993883,0.00008924055,0.00006391136,0.00004922277],"domain_scores_gemma":[0.9995428,0.0001910627,0.0001079793,0.0000181634,0.00001919123,0.0001208105],"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":[0.0008091766,0.0003413004,0.09076946,0.0001450748,0.0001727034,0.6172794,0.000505993,0.0004918498,0.2768775,0.0006719242,0.002179273,0.009756424],"study_design_scores_gemma":[0.0001431436,0.0004657902,0.1701804,0.00004462969,0.0001443651,0.777984,0.0002236487,0.0017729,0.04638794,0.0004431199,0.002178763,0.00003137583],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9973284,0.0001237963,0.0006645428,0.0001490157,0.00003535979,0.00003012539,0.0001774647,0.00006024673,0.001431133],"genre_scores_gemma":[0.9987388,0.00005595437,0.0005754323,0.00006416026,0.00002261173,0.000009593896,0.0001132559,0.00001630841,0.0004040144],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002658068,"threshold_uncertainty_score":0.008892119,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01555713152835004,"score_gpt":0.2700108326605741,"score_spread":0.2544537011322241,"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."}}