{"id":"W2724865486","doi":"10.1038/s41525-017-0024-5","title":"A homozygous mutation in the stem II domain of RNU4ATAC causes typical Roifman syndrome","year":2017,"lang":"en","type":"article","venue":"npj Genomic Medicine","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ontario Genomics; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"Ontario Ministry of Research and Innovation; Hospital for Sick Children; Research and Innovation Foundation; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Immunodeficiency Canada; Jeffrey Modell Foundation","keywords":"Intron; RNA splicing; Biology; Mutation; Genetics; Gene; RNA; Compound heterozygosity; Molecular biology","routes":{"ca_aff":true,"ca_fund":true,"ca_venue":false,"about_ca":true,"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":[0.000115491,0.0005472912,0.0002526967,0.0007579741,0.0003199977,0.0001697139,0.0002252973,0.0004754488,0.00181901],"category_scores_gemma":[0.0004755548,0.0001764476,0.0002181796,0.0003025699,0.0005176994,0.0000888978,0.000281386,0.0001945987,0.0002861082],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003384972,"about_ca_system_score_gemma":0.0002900718,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00326723,"about_ca_topic_score_gemma":0.005681377,"domain_scores_codex":[0.9997974,0.00002584008,0.00001907271,0.00006053901,0.00005798081,0.00003927629],"domain_scores_gemma":[0.999773,0.00008590548,0.00005887548,0.00001169874,0.00001503447,0.0000554929],"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":[0.0005531858,0.0000995733,0.06151241,0.0001565516,0.0001158307,0.2286313,0.0004635979,0.0005717346,0.6940766,0.0006391648,0.0009289342,0.01225108],"study_design_scores_gemma":[0.0001324512,0.0006019946,0.2989225,0.00006078364,0.0001958596,0.5127927,0.000483357,0.002431378,0.1785655,0.0005908672,0.005164128,0.00005846471],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981856,0.0001624496,0.0005677736,0.00006396409,0.000009890275,0.0000163287,0.0001625911,0.00003711374,0.0007942355],"genre_scores_gemma":[0.998966,0.00005504778,0.000560373,0.00002907283,0.000006101953,0.00000418382,0.00008232406,0.000010284,0.0002866785],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00326723,"threshold_uncertainty_score":0.006496429,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02339573634685628,"score_gpt":0.2884228478670025,"score_spread":0.2650271115201462,"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."}}