{"id":"W2000202889","doi":"10.1016/j.ymgme.2011.05.009","title":"A large TAT deletion in a tyrosinaemia type II patient","year":2011,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":5,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Red de Salud Materno Infantil y del Desarrollo; Hospital for Sick Children","keywords":"Tyrosinemia; Frameshift mutation; Genetics; Biology; Gene; Tyrosine aminotransferase; Stop codon; Tyrosine; Mutation","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001921192,0.002223594,0.0008351002,0.001372909,0.002027704,0.0008884468,0.001081609,0.004362809,0.003809673],"category_scores_gemma":[0.001981813,0.0006480211,0.000919983,0.001026812,0.001149418,0.000630463,0.000782979,0.002016315,0.0009363859],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005369881,"about_ca_system_score_gemma":0.0004923687,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001739785,"about_ca_topic_score_gemma":0.0007192026,"domain_scores_codex":[0.9996198,0.00004888162,0.00005501378,0.0001262631,0.00005417585,0.00009565866],"domain_scores_gemma":[0.9986567,0.0005882714,0.0002495947,0.00007225553,0.00005963188,0.0003734443],"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":[0.0002606333,0.00003721354,0.007532144,0.0000298936,0.00002364747,0.9672734,0.00033479,0.0001779512,0.02238722,0.0002395497,0.0003167429,0.001386905],"study_design_scores_gemma":[0.00004439384,0.0001835879,0.01811982,0.0000264022,0.00009227427,0.9720507,0.0002328615,0.0006172978,0.006948336,0.0002817194,0.001356877,0.00004561295],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992546,0.0006311704,0.001683042,0.001503291,0.0002392139,0.00004565038,0.000481341,0.0001414425,0.002728676],"genre_scores_gemma":[0.9978423,0.0001590991,0.0005662979,0.0002708172,0.0001571672,0.00001185267,0.00009064218,0.00004194084,0.0008598558],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004362809,"threshold_uncertainty_score":0.01274461,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008807089169834045,"score_gpt":0.2212668366335765,"score_spread":0.2124597474637425,"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."}}