{"id":"W4307504352","doi":"10.1016/j.gim.2022.09.015","title":"Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants","year":2022,"lang":"en","type":"article","venue":"Genetics in Medicine","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":16,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; McGill University","funders":"National Institutes of Health; National Health and Medical Research Council; Lily Foundation; King Salman Center for Disability Research; Astellas Pharma; State Government of Victoria; National Institute of Neurological Disorders and Stroke; National Institute for Health and Care Research; Bundesministerium für Bildung und Forschung; PTC Therapeutics; Office of Health and Medical Research; Austrian Science Fund; Wellcome Trust Centre for Mitochondrial Research; Royal Children's Hospital Foundation; E-Rare; Murdoch Children's Research Institute; Children's Hospital Foundation; Medical Research Council; Children’s Hospital of Wisconsin Research Institute; Newcastle upon Tyne Hospitals NHS Foundation Trust; Wellcome Trust","keywords":"Liver transplantation; Genotype; Phenotype; Medicine; Liver disease; Survival analysis; Retrospective cohort study; Internal medicine; Pediatrics; Gastroenterology; Transplantation; Biology; Genetics; 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":[0.0003659929,0.0005803619,0.0003116808,0.0007298566,0.0002653277,0.000214278,0.0002726457,0.0003949677,0.001197212],"category_scores_gemma":[0.001625934,0.0001300968,0.0001875614,0.0004190275,0.0003690597,0.0001582161,0.0004721255,0.0002477631,0.0001787182],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001028056,"about_ca_system_score_gemma":0.0001127869,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003339075,"about_ca_topic_score_gemma":0.0003124916,"domain_scores_codex":[0.9996346,0.0001025307,0.00005558924,0.00008470804,0.00006320039,0.00005939601],"domain_scores_gemma":[0.9993837,0.0001835443,0.0002740765,0.00004171497,0.00004559751,0.00007129022],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0009479932,0.00008656983,0.8666931,0.0000951747,0.00008442729,0.07004587,0.0005066178,0.0003747266,0.04568798,0.0003818047,0.0002686697,0.0148271],"study_design_scores_gemma":[0.00002873679,0.0007035763,0.6974992,0.00003389857,0.00009317489,0.2937093,0.0003935604,0.0005608511,0.005925977,0.0002314906,0.00080015,0.00002019134],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9992145,0.0001666879,0.0002324774,0.0000220018,0.000002184136,0.000003657889,0.00005912566,0.000008297325,0.000291118],"genre_scores_gemma":[0.9995818,0.00005554322,0.0002358515,0.00001544506,0.000007380154,0.000003232044,0.00006013465,0.000002859203,0.00003777783],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001197212,"threshold_uncertainty_score":0.004005075,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006646203664351012,"score_gpt":0.2258910281125018,"score_spread":0.2192448244481508,"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."}}