{"id":"W4324129140","doi":"10.1093/brain/awad086","title":"A homozygous <i>POLR1A</i> variant causes leukodystrophy and affects protein homeostasis","year":2023,"lang":"en","type":"article","venue":"Brain","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":8,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston Health Sciences Centre","funders":"Norges Forskningsråd; Universitetet i Oslo","keywords":"Leukodystrophy; Biology; Ribosomal RNA; Ribosome; Genetics; Pathology; RNA; Disease; Medicine; Gene","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001147301,0.001538079,0.0004748736,0.0007514575,0.0006052843,0.0003635015,0.0003664987,0.0009478312,0.001849942],"category_scores_gemma":[0.0004744389,0.0002580753,0.0003887908,0.0004535833,0.0005292355,0.0001855406,0.000332674,0.000570525,0.0006655238],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002417769,"about_ca_system_score_gemma":0.0001638395,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001046148,"about_ca_topic_score_gemma":0.001176744,"domain_scores_codex":[0.9997268,0.0000245635,0.00004164481,0.0001138802,0.00004425168,0.00004885222],"domain_scores_gemma":[0.9997613,0.00005897027,0.00009016322,0.00001640511,0.00001231002,0.00006081823],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.000772854,0.0001948056,0.07407353,0.0001647209,0.0001465212,0.4123838,0.0006575147,0.000279583,0.4940211,0.000574396,0.0009810273,0.01575019],"study_design_scores_gemma":[0.00005408922,0.0007276664,0.1628511,0.00003866821,0.0001624873,0.7871318,0.0002437931,0.0005453895,0.0434788,0.000321043,0.004397093,0.00004817902],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9964396,0.0007490971,0.0008491766,0.0001681414,0.00003149197,0.00001980261,0.0003931864,0.0001408512,0.001208666],"genre_scores_gemma":[0.998287,0.00022649,0.0004066668,0.00008275283,0.00004217763,0.000007713084,0.0002327217,0.00002591561,0.0006885617],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001849942,"threshold_uncertainty_score":0.006188691,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008320023022642916,"score_gpt":0.2352457541279505,"score_spread":0.2269257311053076,"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."}}