{"id":"W2308056140","doi":"10.1002/humu.10230","title":"Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients","year":2003,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":84,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Biology; Genetics; Missense mutation; Argininosuccinate synthase; Exon; Citrullinemia; Gene; Nonsense mutation; Coding region; Mutation; Minigene; Molecular biology; Urea cycle; Alternative splicing; Arginine; Citrulline; Amino acid","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003118461,0.00008399279,0.00008641346,0.00008631692,0.00005082248,0.00001522572,0.00006675764,0.00007724934,0.00001218585],"category_scores_gemma":[0.0001679104,0.00007591291,0.00002212821,0.0001428413,0.00005690108,0.000008180476,0.00000927253,0.00005893666,0.000002897331],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006772397,"about_ca_system_score_gemma":0.00002640933,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002294943,"about_ca_topic_score_gemma":0.0001633566,"domain_scores_codex":[0.9991431,0.0001168221,0.000322296,0.000199185,0.0001182233,0.0001003831],"domain_scores_gemma":[0.999596,0.00002112,0.0001376822,0.0001570507,0.00006953887,0.00001861095],"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":[0.0001770239,0.001494268,0.179203,0.0001179671,0.00005154227,0.000002720956,0.004812141,0.01268547,0.7578039,0.02945841,0.000257806,0.01393585],"study_design_scores_gemma":[0.001825883,0.00009287692,0.9649209,0.00001013847,0.00003073235,0.000002468195,0.0004945943,0.0009721546,0.02807479,0.002978505,0.0004443299,0.0001525655],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9921902,0.0002369832,0.006771934,0.00003024944,0.00006734465,0.0002630591,0.00001396723,0.000002279055,0.0004239585],"genre_scores_gemma":[0.9990803,0.00002648475,0.0002478187,0.00003312213,0.0000152934,0.000026252,0.0005048202,0.000008591765,0.00005729445],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.785718,"threshold_uncertainty_score":0.3095638,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009107454098183155,"score_gpt":0.2480794319777332,"score_spread":0.23897197787955,"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."}}