{"id":"W4200075642","doi":"10.3390/genes13010051","title":"Heterozygous De Novo Truncating Mutation of Nucleolin in an ASD Individual Disrupts Its Nucleolar Localization","year":2021,"lang":"en","type":"article","venue":"Genes","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Queen's University; Hospital for Sick Children; University of Toronto; Centre for Addiction and Mental Health","funders":"Canadian Institutes of Health Research; National Institute for Health and Care Research; Wellcome Trust","keywords":"Nucleolin; Ribosome biogenesis; Nucleoplasm; Biology; Nucleolus; Nucleophosmin; Nonsense mutation; Genetics; Mutant; Mutation; Molecular biology; Ribosome; Gene; RNA; Missense mutation; Cytoplasm","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":[0.0001560456,0.001511969,0.0006255679,0.001148699,0.0006978562,0.0003963488,0.0004128213,0.001380848,0.003101859],"category_scores_gemma":[0.0005668517,0.0002862309,0.0005835065,0.0003775825,0.000732376,0.0002990265,0.0005298794,0.0007676675,0.000623865],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003562676,"about_ca_system_score_gemma":0.0003167285,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00175258,"about_ca_topic_score_gemma":0.001734361,"domain_scores_codex":[0.9997906,0.00001515717,0.00003792005,0.00007838484,0.00004992194,0.00002800949],"domain_scores_gemma":[0.9996829,0.00008839872,0.0000849328,0.00001804369,0.00002197099,0.0001037248],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0005237888,0.0003153112,0.02010743,0.0001426914,0.0001111825,0.599204,0.001399935,0.0005900646,0.3625315,0.001238106,0.001005065,0.01283091],"study_design_scores_gemma":[0.00007703497,0.0008338778,0.0844482,0.00006647559,0.0001789304,0.8547962,0.0006019133,0.002143783,0.0503303,0.0008505962,0.005579273,0.00009334015],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947879,0.0002958343,0.002325985,0.0002880708,0.0001013293,0.00004984183,0.0006326344,0.0001596335,0.001358833],"genre_scores_gemma":[0.9952809,0.000213638,0.002252592,0.0001288969,0.00003841707,0.00002482047,0.0003204476,0.0000428676,0.001697225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003101859,"threshold_uncertainty_score":0.01037675,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01924331001665048,"score_gpt":0.2737390108163293,"score_spread":0.2544957007996788,"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."}}