{"id":"W2096739788","doi":"10.1136/jmedgenet-2012-101357","title":"Mutations in <i>POLR3A</i> and <i>POLR3B</i> are a major cause of hypomyelinating leukodystrophies with or without dental abnormalities and/or hypogonadotropic hypogonadism","year":2013,"lang":"en","type":"article","venue":"Journal of Medical Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":107,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital; University of British Columbia; McGill University; Montreal Neurological Institute and Hospital; Child and Family Research Institute; Université de Montréal","funders":"","keywords":"Genetics; Exon; Leukodystrophy; Nonsense mutation; Biology; Compound heterozygosity; Mutation; RNA polymerase III; Hypogonadotropic hypogonadism; Missense mutation; Gene; Medicine; Internal medicine; Endocrinology; RNA","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":[0.000153067,0.0009749667,0.000395061,0.0005827589,0.0005288145,0.0003828897,0.0003736034,0.0005678864,0.00246996],"category_scores_gemma":[0.0005936354,0.0002983706,0.0003027906,0.0004673786,0.0006418781,0.0001948702,0.0003347203,0.0003378715,0.0005948645],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002863535,"about_ca_system_score_gemma":0.0002012521,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007474099,"about_ca_topic_score_gemma":0.0006856406,"domain_scores_codex":[0.9997718,0.00002183057,0.00002976805,0.00009511661,0.00003490662,0.00004657602],"domain_scores_gemma":[0.9996707,0.00007310469,0.0001629776,0.00001823959,0.00001508855,0.00005979749],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001134321,0.0002157203,0.7086746,0.000362892,0.000333957,0.1187666,0.001125614,0.0005390586,0.1239076,0.0005949556,0.002126424,0.04221822],"study_design_scores_gemma":[0.0001414764,0.000598444,0.5380452,0.0000774946,0.0002310977,0.4403746,0.0003685874,0.0003877551,0.01499576,0.0002211875,0.004520781,0.00003761807],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980108,0.0006495917,0.0003512421,0.00004845525,0.000005043652,0.00001266937,0.0001179191,0.00003367128,0.0007706503],"genre_scores_gemma":[0.9986948,0.0002947479,0.000347471,0.00006323093,0.00002246856,0.00000912132,0.0002222575,0.00001130624,0.0003346965],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00246996,"threshold_uncertainty_score":0.008262813,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01212908473625961,"score_gpt":0.2606619460277282,"score_spread":0.2485328612914686,"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."}}