{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.001001775,0.0007967828,0.00116913,0.0007514227,0.001546495,0.001407763,0.0009252086,0.01441795,0.002894062],"category_scores_gemma":[0.008491367,0.0005057346,0.0007342618,0.0005312251,0.001136034,0.00167372,0.0006179163,0.009179292,0.001755561],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001413982,"about_ca_system_score_gemma":0.0005881019,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002072349,"about_ca_topic_score_gemma":0.003657823,"domain_scores_codex":[0.9990477,0.0002490216,0.0001289974,0.0002326655,0.0001908507,0.000150792],"domain_scores_gemma":[0.9972,0.001502759,0.0002524322,0.0001027941,0.0004468428,0.0004951398],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"case_report","study_design_scores_codex":[0.0005257223,0.0002755566,0.02026699,0.0003359112,0.0001097209,0.3907731,0.0007729612,0.0002612498,0.002721397,0.002996943,0.5417009,0.03925954],"study_design_scores_gemma":[0.0003808502,0.0004947608,0.0275852,0.00119263,0.0002320693,0.6324034,0.0009385084,0.002656826,0.001676581,0.009322948,0.3228915,0.0002246647],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.02280321,0.009353918,0.0005243526,0.9253345,0.0322214,0.00006180773,0.0002289128,0.0001364389,0.009335417],"genre_scores_gemma":[0.185106,0.01206933,0.001412698,0.6463043,0.1392268,0.0001194091,0.0002061222,0.0001368106,0.01541845],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01441795,"threshold_uncertainty_score":0.01025921,"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."}}