{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001143549,0.0001747946,0.0001907016,0.00003501031,0.00009564613,0.00003850737,0.0001598981,0.0001642804,0.00002519622],"category_scores_gemma":[0.0001525954,0.0001727218,0.0002720911,0.00008933765,0.0002071269,0.000001435882,0.0002569835,0.000117426,0.00001289834],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005286291,"about_ca_system_score_gemma":0.0001647981,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002019509,"about_ca_topic_score_gemma":0.00002925384,"domain_scores_codex":[0.9985681,0.000214723,0.0003471268,0.0005144951,0.00007924957,0.0002763433],"domain_scores_gemma":[0.999179,0.0000543782,0.00008162375,0.0004295226,0.0000983834,0.0001570919],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.00009142858,0.0009623093,0.2123629,0.0003950548,0.0006488676,0.0003816276,0.00004017461,0.0001051253,0.7003074,0.0002102837,0.001603391,0.08289146],"study_design_scores_gemma":[0.001844141,0.001780202,0.842145,0.00004363247,0.0005110709,0.0008531703,0.00008759665,0.0002289893,0.1197437,0.0003931395,0.03179033,0.0005789841],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9565852,0.04179978,0.0007933763,0.00009807974,0.0004201294,0.0001541199,0.00003757226,0.00001310068,0.00009862067],"genre_scores_gemma":[0.9887454,0.008406375,0.001049844,0.001314301,0.0001622676,0.00001277703,0.0001026917,0.00003149724,0.0001748737],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6297821,"threshold_uncertainty_score":0.7043389,"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."}}