{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000131531,0.001488127,0.0002204613,0.0006531078,0.0004420088,0.0002234208,0.0002399272,0.0003977591,0.001870504],"category_scores_gemma":[0.000655602,0.0001281678,0.0001955885,0.0004002227,0.0006605709,0.0001447225,0.0005179837,0.0003004639,0.0002872893],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001947864,"about_ca_system_score_gemma":0.0002388929,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001637766,"about_ca_topic_score_gemma":0.002044055,"domain_scores_codex":[0.9997506,0.00003261153,0.00003402939,0.00007935406,0.00006509558,0.00003827268],"domain_scores_gemma":[0.9996845,0.00008058699,0.0001410491,0.00002143995,0.00002188935,0.0000505218],"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":[0.0009987387,0.0001619657,0.1929598,0.0002361272,0.0003210429,0.3114471,0.00119435,0.001033632,0.4579383,0.002057557,0.001653207,0.02999828],"study_design_scores_gemma":[0.00005834444,0.000507126,0.4710723,0.00005190499,0.000199604,0.4688504,0.0003967559,0.0009719334,0.05116853,0.001017137,0.005664607,0.0000413739],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9956749,0.000408132,0.001210931,0.00009384484,0.00002094177,0.00001647955,0.0003192891,0.00004704598,0.002208534],"genre_scores_gemma":[0.9985142,0.0001704755,0.0004491826,0.00006222531,0.00003207841,0.000005310606,0.0002007658,0.00001839268,0.0005474109],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001870504,"threshold_uncertainty_score":0.006257474,"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."}}