{"id":"W1973814233","doi":"10.1016/j.ajhg.2009.04.017","title":"Mutation of a Gene Essential for Ribosome Biogenesis, EMG1, Causes Bowen-Conradi Syndrome","year":2009,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA modifications and cancer","field":"Biochemistry, Genetics and Molecular Biology","cited_by":128,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Manitoba; Children's Hospital Research Institute of Manitoba","funders":"","keywords":"Ribosome biogenesis; Biology; Gene; Genetics; Allele; Mutation; Molecular biology; Ribosome; 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":[0.0002163199,0.001683239,0.0006862231,0.001546992,0.0007946505,0.0004779636,0.0007445368,0.001977728,0.001642666],"category_scores_gemma":[0.001704034,0.0003732298,0.0003299787,0.0008856723,0.001142222,0.000374345,0.0005725837,0.0009436921,0.0003804265],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006257238,"about_ca_system_score_gemma":0.0003669198,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00169588,"about_ca_topic_score_gemma":0.00132703,"domain_scores_codex":[0.9996829,0.00003465192,0.00004025151,0.00007846561,0.0001165142,0.00004715794],"domain_scores_gemma":[0.9990877,0.0003876961,0.000261196,0.00004767532,0.00002595756,0.0001897679],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001072287,0.0002783774,0.02860648,0.0002360751,0.0001640417,0.44234,0.001000695,0.001409693,0.5023649,0.002157808,0.001715263,0.01865448],"study_design_scores_gemma":[0.0002121889,0.0004577173,0.1052674,0.0000865648,0.000389285,0.702004,0.0005401358,0.003231929,0.179581,0.00140221,0.006707383,0.0001201485],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9966111,0.0007641798,0.0006975573,0.000300794,0.00006119376,0.00001535616,0.0001096701,0.0001044643,0.001335567],"genre_scores_gemma":[0.9982014,0.0002454707,0.0007605923,0.00006354303,0.00004215278,0.0000071977,0.00006776568,0.00002994207,0.0005819977],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001977728,"threshold_uncertainty_score":0.00549531,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0121686781733846,"score_gpt":0.2891507291578365,"score_spread":0.2769820509844519,"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."}}