{"id":"W3004984830","doi":"10.3389/fnmol.2020.00012","title":"Expanding Clinical Presentations Due to Variations in THOC2 mRNA Nuclear Export Factor","year":2020,"lang":"en","type":"article","venue":"Frontiers in Molecular Neuroscience","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"SickKids Foundation; Institute for Clinical Evaluative Sciences; Hospital for Sick Children; University of Toronto; McMaster University Medical Centre","funders":"National Health and Medical Research Council; Medical Research Council; University of Toronto; National Institute for Health and Care Research; Department of Health and Social Care; Cancer Research UK; Hospital for Sick Children; Wellcome Trust","keywords":"Missense mutation; RNA splicing; Hypotonia; Biology; Phenotype; Neurodegeneration; RNA-binding protein; Genetics; Messenger RNA; Gene; Medicine; RNA; Pathology; Disease","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":[0.0001734781,0.001418435,0.0004202971,0.0008720962,0.0008032527,0.0003777501,0.0003765709,0.0005691333,0.004564972],"category_scores_gemma":[0.001119243,0.0001877804,0.0002650425,0.0007675264,0.000691021,0.0003181985,0.0008088729,0.0005079386,0.0004438573],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002921489,"about_ca_system_score_gemma":0.0003246487,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001683011,"about_ca_topic_score_gemma":0.001577207,"domain_scores_codex":[0.9996997,0.00002453495,0.00002706799,0.00014955,0.00004372719,0.00005548735],"domain_scores_gemma":[0.9995345,0.0001329365,0.0001156008,0.00004093615,0.00004200904,0.000133986],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005409857,0.0000910692,0.2614132,0.00009396149,0.00006236406,0.6736139,0.001057541,0.0003857936,0.04372219,0.0008964927,0.001409936,0.01671271],"study_design_scores_gemma":[0.00002824809,0.000205114,0.1915654,0.00003185333,0.00006296264,0.7997817,0.0003723214,0.0003295899,0.005118433,0.0005977966,0.001885724,0.00002087889],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9925054,0.0004380212,0.00127819,0.0001949769,0.0000239713,0.00004887558,0.0004421181,0.00008198642,0.004986424],"genre_scores_gemma":[0.9981989,0.000218171,0.0004349139,0.0001215421,0.00003785546,0.00001038441,0.0002318247,0.00002233664,0.0007240768],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004564972,"threshold_uncertainty_score":0.01527137,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03566083655705584,"score_gpt":0.3410559182998296,"score_spread":0.3053950817427738,"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."}}