{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002742023,0.0002835995,0.0005271081,0.0003890331,0.0001087996,0.00003487313,0.0001133252,0.0002350238,0.000374359],"category_scores_gemma":[0.00009748225,0.0002700907,0.0001349401,0.0008289317,0.00008495891,0.0003570183,0.00002145038,0.0002111545,0.00007228437],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001364066,"about_ca_system_score_gemma":0.0001013862,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00171091,"about_ca_topic_score_gemma":0.0006557025,"domain_scores_codex":[0.9978604,0.0001888842,0.0006655123,0.0004975811,0.0004362731,0.0003513297],"domain_scores_gemma":[0.9988393,0.0001387602,0.0002263672,0.0003546299,0.0002404579,0.0002005254],"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":[0.0004458996,0.0002899942,0.02297301,0.0002009652,0.00006125986,0.00003945494,0.003102348,0.0000234478,0.9481312,0.00001892514,0.0001195439,0.02459392],"study_design_scores_gemma":[0.001748466,0.0003034687,0.3903204,0.0001131863,0.00009234441,0.000008270823,0.0001298217,0.001008,0.6058599,0.00007690782,0.00009860751,0.0002405945],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972134,0.0001215616,0.0002350576,0.0005192736,0.0001195631,0.001347661,0.00003752895,0.0001608334,0.000245173],"genre_scores_gemma":[0.9983499,0.0000428569,0.000801589,0.0002749427,0.00004240234,0.00009332535,0.00009798356,0.00005737518,0.0002396444],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3673474,"threshold_uncertainty_score":0.9999751,"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."}}