{"id":"W3045561127","doi":"10.5334/tohm.334","title":"Delayed Diagnoses of SGCE Myoclonus-Dystonia","year":2020,"lang":"en","type":"article","venue":"Tremor and Other Hyperkinetic Movements","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre for Movement Disorders","funders":"","keywords":"Dystonia; Myoclonus; Penetrance; Medicine; Pediatrics; Frameshift mutation; Psychology; Psychiatry; Genetics; Mutation; Biology; Phenotype","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002659243,0.0005929252,0.0003159976,0.0007148327,0.0006679908,0.0005465127,0.0006170651,0.001423846,0.003303656],"category_scores_gemma":[0.002524043,0.0002312618,0.0002119116,0.0003357724,0.0004832319,0.0007754716,0.000689107,0.001326427,0.0007343199],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0008063794,"about_ca_system_score_gemma":0.0007989537,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004703115,"about_ca_topic_score_gemma":0.006583105,"domain_scores_codex":[0.9996988,0.00003902187,0.00003464157,0.00006479949,0.00006113273,0.0001016304],"domain_scores_gemma":[0.9991437,0.0002677782,0.0002151993,0.00003496136,0.0001313016,0.0002069889],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002024342,0.00005785186,0.2180109,0.0001538415,0.00001960255,0.7456406,0.0005761299,0.0003033132,0.003611329,0.001141582,0.005263404,0.025019],"study_design_scores_gemma":[0.00001643587,0.0001207764,0.06104508,0.0002021401,0.00002332215,0.9290553,0.0006188502,0.0006626371,0.002116018,0.0008221159,0.005298431,0.00001880671],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9542279,0.007155044,0.004016087,0.006157833,0.00035979,0.0001180462,0.0006419774,0.0001791769,0.02714417],"genre_scores_gemma":[0.9940765,0.00140651,0.001392429,0.001163564,0.0002319874,0.0000128412,0.0003443391,0.00001541135,0.001356418],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004703115,"threshold_uncertainty_score":0.01105177,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03506026321267963,"score_gpt":0.2664030427355886,"score_spread":0.231342779522909,"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."}}