{"id":"W3127713619","doi":"10.3389/fncel.2020.631802","title":"POLR3-Related Leukodystrophy: Exploring Potential Therapeutic Approaches","year":2021,"lang":"en","type":"article","venue":"Frontiers in Cellular Neuroscience","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":18,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; McGill University; McGill University Health Centre","funders":"McGill University Health Centre; Canadian Institutes of Health Research; Fonds de Recherche du Québec - Santé; Fondation du Grand défi Pierre Lavoie; Faculty of Medicine, McGill University; McGill University","keywords":"Leukodystrophy; Medicine; Genetic enhancement; Neuroscience; Disease; White matter; Neurodegeneration; Bioinformatics; Pathology; Biology; Genetics; Gene; Magnetic resonance imaging","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":[0.0000990653,0.0001277258,0.000111469,0.00006645796,0.00009666907,0.00005454986,0.0002238303,0.00006871332,0.00001037632],"category_scores_gemma":[0.00004859988,0.0001335891,0.00008804833,0.0002984998,0.0001500821,0.0000153415,0.00009999106,0.0000924186,0.000003375806],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001641531,"about_ca_system_score_gemma":0.0001169048,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002261599,"about_ca_topic_score_gemma":6.493399e-7,"domain_scores_codex":[0.9987485,0.00009866845,0.0001788379,0.0005074722,0.0001922567,0.0002742609],"domain_scores_gemma":[0.9994782,0.000001871148,0.00004733914,0.0003393815,0.00002473516,0.0001085061],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00002817819,0.00008584467,0.01162254,0.000008289039,0.000004733068,0.00010511,0.0000283377,0.005102677,0.9792224,0.0001575216,0.0002417881,0.003392546],"study_design_scores_gemma":[0.001847531,0.0001841901,0.0679779,0.00002164708,0.00004007022,0.00007848199,0.0006859197,0.05905767,0.8427788,0.001056129,0.02549525,0.000776393],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9399836,0.002584249,0.05454222,0.0002283295,0.001855443,0.0001110521,0.000004456933,0.00002030977,0.0006703546],"genre_scores_gemma":[0.9968803,0.0001407044,0.00101718,0.0002581,0.00006349136,0.00001332968,0.00003015406,0.0000164775,0.001580296],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1364436,"threshold_uncertainty_score":0.5447603,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04149030871098185,"score_gpt":0.2189754886370429,"score_spread":0.1774851799260611,"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."}}