{"id":"W2070274098","doi":"10.1002/humu.22447","title":"Severity of X-linked Dyskeratosis Congenita (DKCX) Cellular Defects Is not Directly Related to Dyskerin ( <i>DKC1</i> ) Activity in Ribosomal RNA Biogenesis or mRNA Translation","year":2013,"lang":"en","type":"article","venue":"Human Mutation","topic":"Telomeres, Telomerase, and Senescence","field":"Medicine","cited_by":25,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Canadian Institutes of Health Research; Agence Nationale pour la Gestion des Déchets Radioactifs; National Institutes of Health; Michael Smith Health Research BC","keywords":"Dyskeratosis congenita; Biology; Telomerase; Pseudouridine; Telomere; Ribosome biogenesis; RNA; Ribosomal RNA; Telomerase RNA component; Small nucleolar RNA; Nucleolus; Locus (genetics); Genetics; Cell biology; Molecular biology; Ribosome; Non-coding RNA; Cancer research; Gene; Telomerase reverse transcriptase; Transfer RNA","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001037957,0.0004341583,0.0002274407,0.0005229414,0.000112795,0.0002731669,0.00009194759,0.0002680373,0.002196838],"category_scores_gemma":[0.0001974251,0.0001430199,0.0001122296,0.0001747,0.0002147878,0.0001250932,0.0002037486,0.0003614301,0.0003002417],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002080572,"about_ca_system_score_gemma":0.0001302453,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004405416,"about_ca_topic_score_gemma":0.0005543475,"domain_scores_codex":[0.9997653,0.00002421197,0.00004777504,0.00007717471,0.00005431773,0.00003110448],"domain_scores_gemma":[0.9996251,0.00005121648,0.0001318519,0.00003843972,0.00002857853,0.0001248426],"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":[0.0002242375,0.00004978968,0.007789698,0.00003546528,0.00001573902,0.0003067376,0.00002190793,0.00004939779,0.9903222,0.00004023225,0.00003359525,0.001111193],"study_design_scores_gemma":[0.00004147195,0.0009370672,0.3999294,0.00001204892,0.00007964562,0.007161529,0.00009369854,0.0005881647,0.5899651,0.00005997919,0.001118382,0.0000135288],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9984652,0.0002439052,0.0002579786,0.00001244605,0.000003648539,0.00001070945,0.0002775835,0.0000319815,0.0006965206],"genre_scores_gemma":[0.9987784,0.0001316366,0.0001765656,0.000009982158,0.000002394261,0.000007220829,0.0003122812,0.000008642282,0.0005727679],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002196838,"threshold_uncertainty_score":0.007349193,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0331863928656632,"score_gpt":0.2831893580855118,"score_spread":0.2500029652198486,"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."}}