{"id":"W3176668961","doi":"10.1007/s10048-021-00652-7","title":"Secondary biogenic amine deficiencies: genetic etiology, therapeutic interventions, and clinical effects","year":2021,"lang":"en","type":"article","venue":"Neurogenetics","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Vancouver General Hospital; Alberta Children's Hospital; University of Calgary; BC Children's Hospital; University of British Columbia","funders":"Michael Smith Health Research BC; BC Children's Hospital; Genome British Columbia; Rare Disease Foundation; BC Children’s Hospital Foundation; Canadian Institutes of Health Research; Genome Canada","keywords":"Neurotransmitter; Monoamine neurotransmitter; Human genetics; Carbidopa; Dystonia; Medicine; Bioinformatics; Levodopa; Neuroscience; Disease; Biology; Internal medicine; Genetics; Parkinson's disease; Gene; Central nervous system; Serotonin","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":[0.0004375507,0.0006921251,0.001031432,0.0003310201,0.0002166872,0.0004782116,0.0003064744,0.0006463256,0.002142072],"category_scores_gemma":[0.0008207287,0.00006975067,0.0004034923,0.0002062232,0.0005909159,0.0002772818,0.000264827,0.0007370148,0.0002945061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000359881,"about_ca_system_score_gemma":0.0004191607,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0003664835,"about_ca_topic_score_gemma":0.0004303999,"domain_scores_codex":[0.9998454,0.00006200192,0.00001448701,0.00002719649,0.00003048826,0.00002037533],"domain_scores_gemma":[0.9996434,0.0001728207,0.00005911979,0.00002230157,0.00003013066,0.00007216686],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.01954115,0.002526894,0.05977545,0.003185552,0.001367535,0.02096909,0.0002266352,0.001252435,0.210373,0.01452148,0.004761699,0.6614992],"study_design_scores_gemma":[0.009074704,0.03873478,0.4148335,0.003588034,0.005693586,0.1479787,0.001502731,0.00668386,0.1929439,0.06912991,0.1096635,0.0001727211],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7409383,0.2269751,0.01008117,0.005619933,0.0007052774,0.0001305412,0.0004873388,0.000277185,0.01478522],"genre_scores_gemma":[0.9535606,0.03902224,0.003731721,0.001044811,0.0004851426,0.00006281935,0.0002560099,0.00003659918,0.001799971],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002142072,"threshold_uncertainty_score":0.007165968,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0184777310548765,"score_gpt":0.3028276763578966,"score_spread":0.2843499453030202,"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."}}