{"id":"W2773175438","doi":"10.1093/brain/awx290","title":"POLR3A variants in hereditary spastic paraplegia and ataxia","year":2017,"lang":"en","type":"letter","venue":"Brain","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University; Université Laval; University of Alberta; McGill University; McGill University Health Centre; Montreal Neurological Institute and Hospital; SickKids Foundation; University of Toronto; Hospital for Sick Children; McGill University and Génome Québec Innovation Centre; Montreal Children's Hospital","funders":"Fonds de Recherche du Québec - Santé; Canadian Institutes of Health Research; Génome Québec; McGill University","keywords":"Hereditary spastic paraplegia; Ataxia; Paraplegia; Spastic; Medicine; Physical medicine and rehabilitation; Leukodystrophy; Genetics; Biology; Psychiatry; Pathology; Spinal cord; Cerebral palsy; Phenotype; Disease; 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":[0.0006638489,0.0007421941,0.0009752607,0.0005588189,0.0009789215,0.001021051,0.000720255,0.01243813,0.003183275],"category_scores_gemma":[0.00372092,0.0003037722,0.0005762527,0.0004392448,0.001537948,0.0007752111,0.0005374892,0.003781324,0.001154641],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001120378,"about_ca_system_score_gemma":0.0005328371,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001283077,"about_ca_topic_score_gemma":0.001540971,"domain_scores_codex":[0.9995504,0.0001108736,0.00005809494,0.00008485774,0.00008575876,0.0001098916],"domain_scores_gemma":[0.998831,0.0007313804,0.00009949793,0.00005898758,0.0001069406,0.0001721846],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002134225,0.0002126093,0.03095488,0.0001947588,0.0001751376,0.7168469,0.0004328061,0.0008166902,0.0078187,0.01014117,0.1971508,0.03312133],"study_design_scores_gemma":[0.001457701,0.0004712309,0.0439065,0.0005610106,0.0005761845,0.7555141,0.0007426841,0.008581826,0.007256764,0.04560692,0.1351299,0.0001952145],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.2171727,0.01742833,0.002049488,0.6933768,0.02014204,0.00008267334,0.000685014,0.0003337785,0.04872921],"genre_scores_gemma":[0.826879,0.004443808,0.001283012,0.1016459,0.05388898,0.00006776921,0.0001933864,0.00008229657,0.01151569],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.01243813,"threshold_uncertainty_score":0.01064914,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01175336966255506,"score_gpt":0.2503561028275073,"score_spread":0.2386027331649522,"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."}}