{"id":"W1965423459","doi":"10.1212/wnl.0000000000001002","title":"Clinical spectrum of 4H leukodystrophy caused by <i>POLR3A</i> and <i>POLR3B</i> mutations","year":2014,"lang":"en","type":"article","venue":"Neurology","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":206,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Canadian Institutes of Health Research","keywords":"Medicine; Hypogonadotropic hypogonadism; Leukodystrophy; Hypodontia; Compound heterozygosity; Atrophy; Pediatrics; Mutation; Genetics; Pathology; Internal medicine; Biology; Disease; Gene; Dentistry","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003296857,0.0005287719,0.0003869307,0.0008955064,0.0003836371,0.000306133,0.0002775466,0.0003998646,0.002011899],"category_scores_gemma":[0.0009251966,0.0002157632,0.0002395591,0.0004699456,0.000429241,0.0002554237,0.0004243157,0.0001669228,0.0002573149],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002073198,"about_ca_system_score_gemma":0.0002535985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00131619,"about_ca_topic_score_gemma":0.001380225,"domain_scores_codex":[0.9997163,0.00005294107,0.00005150723,0.00007264057,0.00004554609,0.00006110384],"domain_scores_gemma":[0.9995599,0.00008010912,0.000191437,0.0000117012,0.00004281292,0.0001140028],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002479724,0.00005023065,0.9763514,0.00002328516,0.000030147,0.01337908,0.0001644203,0.00008495542,0.007124796,0.0000414988,0.0001179103,0.002384376],"study_design_scores_gemma":[0.00002799322,0.0003214784,0.943293,0.00001842777,0.00003042634,0.055,0.0002845405,0.0001407591,0.0005943679,0.00006002394,0.0002223566,0.000006672596],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990482,0.0001433436,0.00007565515,0.00001774501,0.000001042737,0.00001151626,0.0001026025,0.000006451941,0.0005934614],"genre_scores_gemma":[0.9996336,0.00005625411,0.00008224461,0.00002149659,0.000004045311,0.000004773721,0.0001420516,0.000001919372,0.00005360949],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002011899,"threshold_uncertainty_score":0.006730437,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007245157741421397,"score_gpt":0.2572781188141227,"score_spread":0.2500329610727013,"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."}}