{"id":"W1984906692","doi":"10.1093/brain/awu341","title":"Parkinsonism in GTP cyclohydrolase 1 mutation carriers","year":2014,"lang":"en","type":"letter","venue":"Brain","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Pacific Centre for Reproductive Medicine; University of British Columbia; Saskatchewan Health Authority; University of British Columbia Hospital","funders":"Canada Excellence Research Chairs, Government of Canada; Genome British Columbia","keywords":"Parkinsonism; Dystonia; Levodopa; GTP cyclohydrolase I; Exome sequencing; Mutation; Dopamine; Genetics; Disease; Internal medicine; Medicine; Parkinson's disease; Neuroscience; Psychology; Biology; Tetrahydrobiopterin; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002579344,0.0002697093,0.0002540362,0.0001163656,0.00003556769,0.00003064338,0.0002654197,0.0008084262,0.00005297706],"category_scores_gemma":[0.0001737983,0.0002841132,0.0001214072,0.00008531183,0.00007743193,0.000001470821,0.00005445625,0.0003767427,0.00004655245],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005191958,"about_ca_system_score_gemma":0.00009859561,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008902127,"about_ca_topic_score_gemma":0.00008597223,"domain_scores_codex":[0.9984279,0.0002140534,0.0002631901,0.0005398234,0.0001887279,0.0003663287],"domain_scores_gemma":[0.9992887,0.00002609018,0.0001147018,0.0004889746,0.00002662211,0.00005484455],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0000128098,0.000009785826,0.0001154413,0.00004394701,0.00002657291,0.00006222495,0.00005453428,0.00006014785,0.003759074,0.000006773222,0.9912974,0.004551344],"study_design_scores_gemma":[0.0006373792,0.00004998876,0.0003070215,0.00001552158,0.00001611809,0.00001671873,0.00001407323,0.00004041539,0.001894465,0.0002777017,0.9963989,0.0003316826],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.1902929,0.004770505,0.002382478,0.7817506,0.001884822,0.001141001,0.000206915,0.00005442058,0.01751636],"genre_scores_gemma":[0.04926378,0.0001705396,0.0003647494,0.9358819,0.003047409,0.0001040611,0.003686176,0.00009951444,0.007381928],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.1541312,"threshold_uncertainty_score":0.9999611,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006810555585870843,"score_gpt":0.2313442811612812,"score_spread":0.2245337255754104,"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."}}