{"id":"W1552291236","doi":"10.1007/8904_2011_96","title":"Chaperone-Like Therapy with Tetrahydrobiopterin in Clinical Trials for Phenylketonuria: Is Genotype a Predictor of Response?","year":2011,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Children's Hospital","funders":"","keywords":"Phenylalanine hydroxylase; Genotype; Allele; Medicine; Phenotype; Clinical trial; Internal medicine; Missense mutation; Pharmacology; Genetics; Biology; Gene; Phenylalanine","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":[0.003399683,0.0001656221,0.0004917803,0.00005938064,0.00002135982,0.000006165783,0.0001220418,0.0002136356,0.00009291507],"category_scores_gemma":[0.0004809694,0.0001210417,0.0001989095,0.00008208278,0.0001285246,0.000003374489,0.0000355951,0.00006198649,0.000001157624],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000190225,"about_ca_system_score_gemma":0.0001926964,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002808397,"about_ca_topic_score_gemma":0.00002620027,"domain_scores_codex":[0.9978386,0.0002871357,0.001058043,0.0004677116,0.0001292314,0.0002193101],"domain_scores_gemma":[0.9986803,0.00005913003,0.0004955001,0.0005920579,0.00009269267,0.00008033206],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.03787906,0.001765232,0.1851216,0.00009668629,0.0007211324,0.0001062685,0.001972962,0.00001028069,0.7362788,0.00003422449,0.006357688,0.02965604],"study_design_scores_gemma":[0.007613115,0.004742309,0.3513448,0.00005446429,0.0001263543,0.0001073669,0.0002084144,0.00001998974,0.3905077,0.0004325442,0.2442469,0.0005960808],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9959959,0.001622496,0.0005896774,0.00004739309,0.0004155356,0.0007827278,0.0000270793,0.000007549132,0.0005116076],"genre_scores_gemma":[0.9951109,0.0005798567,0.002985707,0.0002099772,0.0001344201,0.0001003009,0.00004144634,0.00002837645,0.0008090736],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3457712,"threshold_uncertainty_score":0.4935939,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.09694479630655344,"score_gpt":0.3556639745040179,"score_spread":0.2587191781974645,"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."}}