{"id":"W2133617345","doi":"10.1038/ng1681","title":"Deficiency of UBR1, a ubiquitin ligase of the N-end rule pathway, causes pancreatic dysfunction, malformations and mental retardation (Johanson-Blizzard syndrome)","year":2005,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Ubiquitin and proteasome pathways","field":"Biochemistry, Genetics and Molecular Biology","cited_by":272,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children","funders":"Deutsche Forschungsgemeinschaft; Deutsche Krebshilfe; Ellison Medical Foundation","keywords":"Biology; Ubiquitin ligase; Endocrinology; Exocrine pancreatic insufficiency; Internal medicine; Genetics; Aplasia; Pancreas; Ubiquitin; Gene; Medicine; Anatomy","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001884446,0.0001470096,0.0001557642,0.00005476877,0.0001134997,0.00001311509,0.0001742912,0.0002635688,0.00003543477],"category_scores_gemma":[0.0000874581,0.0001169712,0.00008032948,0.0001622983,0.0001470166,0.000008269846,0.0001189507,0.0001685501,0.000002674632],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001542307,"about_ca_system_score_gemma":0.0001025994,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000007275069,"about_ca_topic_score_gemma":0.00004110584,"domain_scores_codex":[0.9990138,0.0000645585,0.0003134687,0.0002095423,0.0002279035,0.0001707238],"domain_scores_gemma":[0.999235,0.00001452666,0.0002032339,0.0003492871,0.0001459424,0.00005196083],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00009809075,0.0002205892,0.02212804,0.0002967178,0.00009481217,0.000001369505,0.0008280225,0.0002044189,0.9633899,0.0004555778,0.001566476,0.01071595],"study_design_scores_gemma":[0.00046592,0.0002483551,0.02047058,0.0000503437,0.00005091199,0.00008786913,0.000166463,0.0001648441,0.9680228,0.0001341389,0.009991184,0.0001465898],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9923232,0.005768833,0.0001496911,0.0002583985,0.000138019,0.0003374896,0.0002398693,0.000008201599,0.0007763471],"genre_scores_gemma":[0.9969857,0.0007501627,0.001680164,0.0001717687,0.00008403698,0.00001759064,0.0001250522,0.0000155416,0.0001699403],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01056936,"threshold_uncertainty_score":0.4769948,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007136241350316382,"score_gpt":0.2262892266157437,"score_spread":0.2191529852654273,"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."}}