{"id":"W2805343326","doi":"10.1002/humu.23557","title":"Severe neurocognitive and growth disorders due to variation in <i>THOC2</i>, an essential component of nuclear mRNA export machinery","year":2018,"lang":"en","type":"article","venue":"Human Mutation","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":24,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University Medical Centre; Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Eye Institute; National Human Genome Research Institute; National Health and Medical Research Council; Ministerio de Economía y Competitividad; National Heart, Lung, and Blood Institute; Ontario Genomics Institute; Channel 7 Children's Research Foundation; Génome Québec; Canadian Institutes of Health Research; Genome Canada; Children's Hospital of Eastern Ontario Foundation; Ontario Genomics","keywords":"Biology; Missense mutation; Nuclear export signal; Genetics; Phenotype; Neurocognitive; RNA splicing; Intellectual disability; Gene; Neuroscience; Cell nucleus; RNA; Cognition","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":[0.0001352482,0.00006380355,0.00007169681,0.0000709481,0.00006720246,0.00001647806,0.00005108494,0.00004094181,0.00001351057],"category_scores_gemma":[0.00004116054,0.00006772099,0.00001553011,0.00005948604,0.00004671086,0.00001142704,0.00004051868,0.00004226949,0.000002434232],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006688668,"about_ca_system_score_gemma":0.00001388978,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002859027,"about_ca_topic_score_gemma":0.0004221412,"domain_scores_codex":[0.9993936,0.00006996994,0.0001400061,0.0001924663,0.00009637325,0.0001075327],"domain_scores_gemma":[0.9997351,0.000005395986,0.00004978981,0.0000796634,0.00007688877,0.00005313849],"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":[0.0001321483,0.00006394178,0.003220348,0.00001542733,0.000007856664,0.000003763169,0.0006938894,0.00002010379,0.9940034,0.0002165431,0.00003981144,0.001582792],"study_design_scores_gemma":[0.001061106,0.001265958,0.9461994,0.00002240137,0.000009677401,0.00001600116,0.0002830115,0.00174351,0.04837682,0.000787418,0.00006050724,0.0001741469],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9979809,0.000007342801,0.001394802,0.00005909397,0.00002437672,0.0001820309,0.000006017299,0.000004857128,0.0003405824],"genre_scores_gemma":[0.999362,0.00000742757,0.0002846493,0.0001078723,0.00008730323,0.000007020625,0.0001055794,0.00001171257,0.00002647141],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9456266,"threshold_uncertainty_score":0.2761582,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00822351978025272,"score_gpt":0.2689541194943395,"score_spread":0.2607305997140868,"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."}}