{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008537864,0.0001848274,0.0001675832,0.00005770094,0.0000529574,0.00004927921,0.0001952826,0.0004978756,0.00006056554],"category_scores_gemma":[0.0001765695,0.0001851806,0.00005720425,0.00001994136,0.00008962092,0.000003468322,0.0001006446,0.0002219119,0.00002182238],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007672637,"about_ca_system_score_gemma":0.00009764716,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005427222,"about_ca_topic_score_gemma":0.00003476861,"domain_scores_codex":[0.9990713,0.00006889935,0.000144161,0.0003885251,0.0001054867,0.0002216073],"domain_scores_gemma":[0.9993065,0.00001852346,0.00009183272,0.0004956377,0.00001729141,0.00007020702],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00002672627,0.00001111334,0.001485762,0.00004520001,0.00002082689,0.0004625232,0.000006010251,0.000002378798,0.001165019,0.00000802634,0.9962673,0.0004990833],"study_design_scores_gemma":[0.0006464563,0.00004406921,0.0668817,0.00004152984,0.00001415915,0.00006283256,0.000003525083,0.00004699763,0.00004128996,0.0001963063,0.9317567,0.0002644639],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.1359803,0.005070258,0.0003483803,0.8478977,0.001310054,0.0007266464,0.0006582167,0.00003528801,0.007973164],"genre_scores_gemma":[0.2432164,0.000114208,0.0002836447,0.696826,0.00910577,0.00005145463,0.004751282,0.0001082135,0.04554297],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.1510717,"threshold_uncertainty_score":0.7551447,"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."}}