{"id":"W2139506875","doi":"10.1002/mds.25421","title":"Alpha‐synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease","year":2013,"lang":"en","type":"article","venue":"Movement Disorders","topic":"Parkinson's Disease Mechanisms and Treatments","field":"Medicine","cited_by":662,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Saskatchewan; Saskatchewan Health Authority; Pacific Centre for Reproductive Medicine; University of British Columbia","funders":"Canadian Institutes of Health Research","keywords":"Missense mutation; Parkinsonism; Alpha-synuclein; Genetics; Mutation; Exon; Biology; Parkinson's disease; Dementia; Disease; Gene; Medicine; Pathology","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":[0.00008359653,0.0002755466,0.0002540141,0.0001231476,0.0001523432,0.00005081109,0.00009256473,0.00005897388,0.0005667548],"category_scores_gemma":[0.00005598107,0.0002463258,0.0002713444,0.0001430713,0.0000377578,0.0001717761,0.00003680048,0.00005929767,0.0001677807],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001389807,"about_ca_system_score_gemma":0.00009168161,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001565642,"about_ca_topic_score_gemma":0.00003251199,"domain_scores_codex":[0.9984351,0.000016817,0.0002663108,0.0004936319,0.0003408313,0.0004473028],"domain_scores_gemma":[0.9989821,0.00003395189,0.0001043315,0.0003578278,0.00008578355,0.0004360443],"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":[0.004009915,0.0249339,0.2555295,0.001773325,0.003921919,0.0002397871,0.001258318,0.0003404055,0.08018412,0.01736018,0.07664001,0.5338086],"study_design_scores_gemma":[0.01745702,0.001055926,0.787567,0.0001392071,0.00100744,9.351187e-7,0.0006249299,0.01327139,0.001261111,0.07123295,0.1056264,0.0007557197],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.972617,0.0008342048,0.01500099,0.00600436,0.0002689562,0.004043665,0.0002645656,0.0001780754,0.0007882343],"genre_scores_gemma":[0.9874308,0.0001117386,0.002767798,0.005920134,0.00007115379,0.002114878,0.0004083962,0.000063867,0.001111294],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5330529,"threshold_uncertainty_score":0.9999989,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01321745493181464,"score_gpt":0.2486294273932527,"score_spread":0.2354119724614381,"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."}}