{"id":"W4376608467","doi":"10.1097/hc9.0000000000000139","title":"Clinical spectrum and genetic causes of mitochondrial hepatopathy phenotype in children","year":2023,"lang":"en","type":"article","venue":"Hepatology Communications","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":10,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"University of Colorado School of Medicine, Anschutz Medical Campus; Children's Hospital of Pittsburgh; National Center for Advancing Translational Sciences; University of Colorado Denver; National Institutes of Health; Hospital for Sick Children; Astellas Pharma; National Institute of Diabetes and Digestive and Kidney Diseases; Audentes Therapeutics; Children's Hospital of Philadelphia; Medical Center, University of Pittsburgh; University of Pittsburgh; Children's Hospital Foundation; Cincinnati Children's Hospital Medical Center; Children's Healthcare of Atlanta; National Center for Research Resources; Seattle Children's Research Institute; Gilead Sciences; Sanofi","keywords":"Etiology; Mitochondrial DNA; Medicine; Chronic liver disease; Liver transplantation; Internal medicine; Phenotype; Gastroenterology; Cohort; Liver disease; Transplantation; Genetics; Biology; Gene; Cirrhosis","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001587772,0.0001114134,0.0002500199,0.0001322104,0.0000775789,0.000005030864,0.0003792622,0.0002498401,0.00002373673],"category_scores_gemma":[0.0002374028,0.0001177159,0.00007028684,0.0002406916,0.0004163886,0.000002828384,0.0004262593,0.0001846349,0.00004161595],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005126444,"about_ca_system_score_gemma":0.00008653008,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001295734,"about_ca_topic_score_gemma":0.001034496,"domain_scores_codex":[0.9985721,0.0004450759,0.0004457598,0.0002895285,0.00005090986,0.0001966944],"domain_scores_gemma":[0.9985886,0.0001026851,0.0001126125,0.001097107,0.00003886921,0.00006015513],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004322208,0.00008218225,0.977163,0.000003881926,0.00003306292,0.00000275568,0.00004474974,0.000004842526,0.01970977,0.0008694907,0.001279493,0.0007636152],"study_design_scores_gemma":[0.001420971,0.0003265761,0.9778929,0.00001006762,0.00004126025,0.0001386364,0.00004638459,0.0003922773,0.002519739,0.001124861,0.01585953,0.0002267346],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968119,0.001072434,0.0002789517,0.0007582026,0.0003507968,0.0002389685,0.00002803412,0.00002654353,0.0004342127],"genre_scores_gemma":[0.9895085,0.005997297,0.003700867,0.0002291547,0.0001334582,0.00004166447,0.0002425347,0.00001686845,0.0001296603],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01719003,"threshold_uncertainty_score":0.4800315,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02944635428200515,"score_gpt":0.3148964200981753,"score_spread":0.2854500658161702,"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."}}