{"id":"W356892710","doi":"10.1212/wnl.84.14_supplement.s42.006","title":"An exon trap with proper poly-A site in the GBE1 is the common missing cause in Adult Polyglucosan Body Disease (S42.006)","year":2015,"lang":"en","type":"article","venue":"Neurology","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto","funders":"","keywords":"Trap (plumbing); Exon; Disease; Gerontology; Medicine; Genetics; Biology; Pathology; Physics; Gene","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":[0.0002166052,0.0002029859,0.0002650724,0.000107546,0.0000751175,0.00003376428,0.0002314188,0.00008643651,0.0000264101],"category_scores_gemma":[0.00006850798,0.0001046667,0.00005776075,0.0002621281,0.000168562,0.0000938743,0.00003156425,0.0004545605,0.00001914879],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002084101,"about_ca_system_score_gemma":0.0001953298,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002296372,"about_ca_topic_score_gemma":0.00173269,"domain_scores_codex":[0.9982516,0.0004427217,0.0002308445,0.0003719595,0.0002881893,0.0004147136],"domain_scores_gemma":[0.9987685,0.00007002179,0.00006606644,0.0007036469,0.00006078452,0.0003309843],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02159631,0.002208197,0.90249,0.00008444222,0.0000604461,0.04219583,0.01448944,0.00006288521,0.002791408,0.000297139,0.002425424,0.01129853],"study_design_scores_gemma":[0.006339489,0.004247363,0.9730795,0.00005769295,0.0003373935,0.001642108,0.0006575867,0.00269999,0.0001710614,0.0001458064,0.01031991,0.0003021098],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9713869,0.0008340208,0.000005295012,0.02656617,0.0000886927,0.0006581437,0.00002121513,0.00003356861,0.0004059885],"genre_scores_gemma":[0.9582002,0.00002156458,0.00001312333,0.04144973,0.0001461309,0.00005475839,0.00003524459,0.00003296346,0.0000463312],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.07058953,"threshold_uncertainty_score":0.4268185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02249960314204082,"score_gpt":0.2808499916751559,"score_spread":0.2583503885331151,"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."}}