{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004658856,0.0004991186,0.0004061373,0.001368928,0.0005344294,0.0004835406,0.0003111832,0.0003866734,0.002670953],"category_scores_gemma":[0.002220914,0.0001702155,0.000293849,0.0009591806,0.0005502415,0.0003720423,0.0005961574,0.000368466,0.0002646052],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004331552,"about_ca_system_score_gemma":0.0005252651,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003567984,"about_ca_topic_score_gemma":0.002821922,"domain_scores_codex":[0.999542,0.00006626027,0.00004653859,0.0001284068,0.0001068001,0.0001100173],"domain_scores_gemma":[0.999033,0.000245129,0.0003926804,0.00002922114,0.0001157135,0.0001842809],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00004226446,0.000009876259,0.9970068,0.000007792733,0.00001080524,0.001317326,0.00009021749,0.00005469328,0.0003733893,0.00003238666,0.0001214396,0.0009329314],"study_design_scores_gemma":[0.000006453607,0.00006142066,0.9864411,0.00001946215,0.00001385887,0.01249054,0.0003941206,0.0001112766,0.0001810906,0.00005397847,0.0002221495,0.000004516632],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986412,0.0001807466,0.0001057882,0.00004567762,0.000004128847,0.00001041201,0.0004996604,0.000007459555,0.000504918],"genre_scores_gemma":[0.9989861,0.0001478216,0.0001857565,0.00002098642,0.000006530066,0.00001237117,0.0005730487,0.00000527995,0.00006202111],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003567984,"threshold_uncertainty_score":0.008935213,"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."}}