{"id":"W2593617610","doi":"10.1111/cge.13003","title":"Tyrosinemia type <scp>II</scp>: Mutation update, 11 novel mutations and description of 5 independent subjects with a novel founder mutation","year":2017,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine; Université Laval","funders":"Deutsche Forschungsgemeinschaft","keywords":"Mutation; Tyrosinemia; Genetics; Mutation testing; Biology; Gene; Biochemistry; Tyrosine","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":[0.0003402404,0.0001906156,0.0002420741,0.00005000183,0.0002526415,0.00008439989,0.0002347625,0.0002701478,0.000003777103],"category_scores_gemma":[0.0007882025,0.0001770875,0.00006750662,0.00007635603,0.0004101984,0.00001510336,0.0001582561,0.0001122593,0.000003533974],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003823439,"about_ca_system_score_gemma":0.0001775768,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003413302,"about_ca_topic_score_gemma":0.0003729622,"domain_scores_codex":[0.9985688,0.0000428844,0.0004904283,0.0004553739,0.0002235351,0.0002189818],"domain_scores_gemma":[0.9984202,0.00005404133,0.0004439254,0.0005672871,0.0003832057,0.0001312997],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0003904354,0.002068043,0.3928417,0.0002258386,0.0005383766,0.00001226285,0.0009634385,0.003916359,0.5713583,0.001646489,0.001869753,0.02416906],"study_design_scores_gemma":[0.004476917,0.001189624,0.9369131,0.00003831216,0.0002643747,0.00004475021,0.0004847485,0.001239272,0.04692797,0.0006007697,0.00759696,0.0002232146],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9663149,0.0006951281,0.03180005,0.00007397004,0.0003871987,0.000302599,0.000047735,0.000008930707,0.0003694756],"genre_scores_gemma":[0.9862327,0.0005850832,0.01203337,0.0001763445,0.0001672316,0.00001383669,0.0002802121,0.00003146891,0.0004797593],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5440714,"threshold_uncertainty_score":0.7221419,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04586071031825718,"score_gpt":0.3229430207038143,"score_spread":0.2770823103855571,"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."}}