{"id":"W3135897702","doi":"10.1111/cge.13955","title":"<scp> <i>GCH1</i> </scp> mutations in hereditary spastic paraplegia","year":2021,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Hereditary Neurological Disorders","field":"Neuroscience","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; McGill University; Hospital for Sick Children","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research","keywords":"Hereditary spastic paraplegia; Paraplegia; Spastic; Genetics; Mutation; Medicine; Neuroscience; Biology; Phenotype; Physical medicine and rehabilitation; Gene; Spinal cord; Cerebral palsy","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.00009983383,0.0004371131,0.000216197,0.0006193939,0.0006665898,0.0003203588,0.0002180888,0.0002670598,0.002225005],"category_scores_gemma":[0.0003610406,0.00009737152,0.0001863025,0.0006625866,0.0003303199,0.00007321838,0.0002742023,0.000201193,0.0002404234],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0007451852,"about_ca_system_score_gemma":0.0007490712,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.05409373,"about_ca_topic_score_gemma":0.1047151,"domain_scores_codex":[0.9999142,0.000007755109,0.000007973541,0.00002348037,0.00002628894,0.00002028825],"domain_scores_gemma":[0.99991,0.00001842288,0.00001982866,0.000004016182,0.00001847488,0.00002930464],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001503764,0.000218193,0.6534647,0.0003259533,0.0003890216,0.07546266,0.001614268,0.001671446,0.1636443,0.0008216063,0.005268496,0.09561566],"study_design_scores_gemma":[0.00006538137,0.0001527292,0.9131294,0.00007810818,0.000190147,0.05600305,0.0004101401,0.001189606,0.02276116,0.0003577931,0.005643894,0.00001855995],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9962696,0.0005470978,0.0004554781,0.00009456735,0.000007980335,0.00003055017,0.0006624124,0.00002577991,0.001906489],"genre_scores_gemma":[0.9980451,0.0002672017,0.0006261168,0.00008132066,0.000005447594,0.000006831328,0.0004438055,0.000008646717,0.0005155427],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.05409373,"threshold_uncertainty_score":0.1075577,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1021016836882705,"score_gpt":0.3538958138569235,"score_spread":0.251794130168653,"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."}}