{"id":"W2014062879","doi":"10.1002/1531-8249(200004)47:4<517::aid-ana17>3.0.co;2-b","title":"Dopa-responsive dystonia due to a large deletion in the GTP cyclohydrolase I gene","year":2000,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":55,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Montreal General Hospital; University of Toronto; North York General Hospital; Centre for Addiction and Mental Health","funders":"","keywords":"GTP cyclohydrolase I; genomic DNA; Dystonia; Genetics; Gene; Mutation; Coding region; Biology; Enzyme; Tetrahydrobiopterin; Neuroscience; Biochemistry","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":[0.0004333339,0.0001233758,0.0001722548,0.00007496955,0.00003773844,0.000006286144,0.0002885244,0.0001032046,0.000119218],"category_scores_gemma":[0.0001087349,0.0001007094,0.00007388029,0.0001606085,0.00005602203,0.000002315491,0.00004656909,0.00008753903,0.00004740018],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":2.10471e-7,"about_ca_system_score_gemma":0.00003088806,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004099135,"about_ca_topic_score_gemma":0.0001350375,"domain_scores_codex":[0.9986659,0.0003889937,0.0002204864,0.0003070004,0.0001044318,0.0003131924],"domain_scores_gemma":[0.9994095,0.00003227175,0.00004707317,0.0004025184,0.00005195442,0.00005666339],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.007019198,0.001254764,0.007582978,0.00003634845,0.0001182318,0.0005101729,0.001375073,0.003623111,0.8761084,0.0008614544,0.04363732,0.05787295],"study_design_scores_gemma":[0.001227175,0.001532387,0.1627166,0.000003961285,0.00001871469,0.0002143533,0.00004306262,0.00009157512,0.1101375,0.0007987058,0.7229444,0.000271587],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9922411,0.0007675877,0.0001100453,0.005537712,0.00006566427,0.0002162493,0.00003409281,0.000003858164,0.001023628],"genre_scores_gemma":[0.9767426,0.0005446533,0.0000501059,0.02234566,0.00008032643,0.00003079191,0.00003848382,0.00001199994,0.0001553847],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7659709,"threshold_uncertainty_score":0.410681,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01390755992202529,"score_gpt":0.284665402304873,"score_spread":0.2707578423828477,"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."}}