{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001239866,0.0003950154,0.0001955852,0.0002390207,0.0002627937,0.0001643079,0.0001475396,0.0004062056,0.003212524],"category_scores_gemma":[0.0003208692,0.0001549337,0.0002465053,0.0002204388,0.0003222263,0.00008178796,0.0002160026,0.0003729647,0.0005473995],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000110258,"about_ca_system_score_gemma":0.0001134285,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004601526,"about_ca_topic_score_gemma":0.0006868041,"domain_scores_codex":[0.9998922,0.00001444366,0.00001284658,0.00004181723,0.00001981143,0.00001887459],"domain_scores_gemma":[0.9998204,0.00004984189,0.00007206684,0.00001357632,0.00001172409,0.00003243793],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001254693,0.0003330977,0.1708084,0.0001599893,0.0001054804,0.09174793,0.0005034386,0.0003365076,0.7141573,0.0004856148,0.0006475892,0.01945983],"study_design_scores_gemma":[0.0003141475,0.002811758,0.4894633,0.00005489816,0.000186059,0.3955151,0.0004807619,0.001659478,0.1017889,0.0003630999,0.007327801,0.0000346774],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9990657,0.0000919376,0.0004377376,0.00002945104,0.00000787525,0.000009160629,0.00007360797,0.00001150036,0.000273138],"genre_scores_gemma":[0.998237,0.00006547671,0.0007616252,0.00006364445,0.000008415715,0.00001049458,0.0002110073,0.00001193072,0.0006303446],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003212524,"threshold_uncertainty_score":0.0107469,"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."}}