{"id":"W2086546094","doi":"10.1002/humu.9521","title":"Myoclonus-dystonia: significance of large<i>SGCE</i>deletions","year":2008,"lang":"en","type":"article","venue":"Human Mutation","topic":"Neurological disorders and treatments","field":"Medicine","cited_by":117,"is_retracted":false,"has_abstract":true,"ca_institutions":"Toronto Western Hospital; University of British Columbia","funders":"Fritz Thyssen Stiftung; Volkswagen Foundation","keywords":"Multiplex ligation-dependent probe amplification; Genetics; Biology; Point mutation; Mutation; Exon; Gene; Genotype; Molecular biology","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":[0.00003273482,0.00006935037,0.0001398331,0.00004226809,0.0001265172,0.000002018056,0.00002658619,0.00003944459,0.0002041053],"category_scores_gemma":[0.00002245055,0.00005830518,0.00005743123,0.0001036536,0.00006748053,0.00003646179,0.000007037471,0.00006470648,0.00004999717],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001443606,"about_ca_system_score_gemma":0.00002109618,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001998314,"about_ca_topic_score_gemma":0.000008412524,"domain_scores_codex":[0.9994256,0.00002216333,0.0001609836,0.0001414217,0.0001383222,0.0001114436],"domain_scores_gemma":[0.9996861,0.00001971442,0.00006580826,0.000119634,0.00006541007,0.00004331131],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001027764,0.01469695,0.604938,0.0006222649,0.0006884431,0.004298669,0.006944716,0.0004705312,0.2632104,0.06243468,0.03186336,0.008804194],"study_design_scores_gemma":[0.003361678,0.001208961,0.9833552,0.00002506,0.0001069562,0.00006446987,0.00008493252,0.0001108853,0.005521315,0.004765462,0.001278403,0.0001167398],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9935139,0.000109321,0.0004098612,0.000328709,0.00002848959,0.0002572457,0.00001000883,0.00004293665,0.005299483],"genre_scores_gemma":[0.9982671,0.00002492832,0.0002428742,0.0004777866,0.00002299288,0.00002704574,0.00008010863,0.000008661154,0.0008485633],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3784172,"threshold_uncertainty_score":0.2377616,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03469081528166733,"score_gpt":0.304794985755609,"score_spread":0.2701041704739416,"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."}}