{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001962178,0.0000868355,0.0001034562,0.00003472984,0.00004128866,0.00002061954,0.0001031321,0.0001265556,0.00002732594],"category_scores_gemma":[0.00009526934,0.00009461878,0.00003645181,0.00009666121,0.00001589516,0.000007943255,0.00004781719,0.00003023703,0.000003054882],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000008296444,"about_ca_system_score_gemma":0.00006608797,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001050296,"about_ca_topic_score_gemma":0.000118258,"domain_scores_codex":[0.9991957,0.0001394704,0.0001956654,0.0002160795,0.0001046372,0.0001484275],"domain_scores_gemma":[0.9996253,0.000008390954,0.0000781258,0.0001632293,0.00008393365,0.00004101647],"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":[0.00002126829,0.00005749216,0.005695973,0.00002864418,0.00001209284,0.00001455221,0.0003368859,0.001049939,0.9669992,0.00007300782,0.000003112868,0.02570782],"study_design_scores_gemma":[0.0002584555,0.000110038,0.005432156,0.00002119177,0.00001062961,0.00003064226,0.0002407492,0.0006881308,0.9925815,0.000199534,0.0003186625,0.0001083438],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9895984,0.001092121,0.009048196,0.00002721519,0.00006046836,0.00009195466,0.0000162152,0.000007238688,0.00005821317],"genre_scores_gemma":[0.9961411,0.00009840749,0.003341034,0.0001028137,0.00008725457,0.00001338187,0.0001695614,0.00001828311,0.00002820928],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02559948,"threshold_uncertainty_score":0.3858442,"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."}}