{"id":"W2154172280","doi":"10.1002/ana.23829","title":"Whispering dysphonia (DYT4 dystonia) is caused by a mutation in the <i>TUBB4</i> gene","year":2012,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":142,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of Toronto","funders":"National Institute on Deafness and Other Communication Disorders; National Medical Research Council; National Health and Medical Research Council; Hermann und Lilly Schilling-Stiftung für Medizinische Forschung; Bachmann-Strauss Dystonia and Parkinson Foundation","keywords":"Dystonia; Missense mutation; Genetics; Mutation; Biology; Exon; Gene; Neuroscience","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0001442282,0.0001172574,0.0002353142,0.00005687566,0.00003321312,0.000003908378,0.00008850415,0.00009491966,0.00007351804],"category_scores_gemma":[0.00005241645,0.00007866527,0.00006528934,0.0001593521,0.00007480072,0.00005986165,0.00002500222,0.0001764838,0.00003231952],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000208977,"about_ca_system_score_gemma":0.0000105704,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00006588832,"about_ca_topic_score_gemma":0.000008823456,"domain_scores_codex":[0.9990069,0.0001216806,0.0002126692,0.000182272,0.0001460275,0.0003304915],"domain_scores_gemma":[0.9994985,0.0001105753,0.00007521788,0.0002170398,0.00003228736,0.00006640751],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.002233174,0.005770167,0.7488819,0.0001348728,0.0002817486,0.00138995,0.005505219,0.00004216372,0.1459453,0.0006150028,0.06625211,0.02294839],"study_design_scores_gemma":[0.003434907,0.004853987,0.9196809,0.0000100617,0.0001035417,0.0002206498,0.00004770681,0.000152736,0.04213544,0.001639675,0.0275185,0.0002018843],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9711473,0.001473473,0.000007008017,0.02631575,0.00007619343,0.0002349397,0.00001141619,0.00001497233,0.000718947],"genre_scores_gemma":[0.9355543,0.0003774478,0.00001084432,0.06394112,0.00003108814,0.00002464913,0.00001357021,0.00001162611,0.00003534902],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.170799,"threshold_uncertainty_score":0.3207877,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.06056247928456174,"score_gpt":0.3294507640489134,"score_spread":0.2688882847643517,"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."}}