{"id":"W3150790461","doi":"10.1016/j.ajhg.2021.03.013","title":"Progressive myoclonus epilepsies—Residual unsolved cases have marked genetic heterogeneity including dolichol-dependent protein glycosylation pathway genes","year":2021,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":86,"is_retracted":false,"has_abstract":false,"ca_institutions":"McGill University; Montreal Neurological Institute and Hospital","funders":"Medical Research Council; National Health and Medical Research Council; State Government of Victoria; Helsinki Institute of Life Science, Helsingin Yliopisto; National Institutes of Health; National Heart, Lung, and Blood Institute; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Helsingin Yliopisto","keywords":"Dolichol; Glycosylation; Gene; Myoclonus; Genetics; N-linked glycosylation; Biology; Glycoprotein; Medicine; 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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000227372,0.0007280348,0.0003405292,0.0008635527,0.0002980772,0.0004355947,0.0006772543,0.0005288672,0.003488171],"category_scores_gemma":[0.0009650532,0.0001662156,0.0002931148,0.0005260083,0.0006044236,0.0004182588,0.0004144068,0.0003536924,0.0007988852],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001979566,"about_ca_system_score_gemma":0.0002975837,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001954348,"about_ca_topic_score_gemma":0.002255874,"domain_scores_codex":[0.9998343,0.00001960591,0.00002642418,0.0000529461,0.00002658867,0.00004003734],"domain_scores_gemma":[0.9996804,0.0001014557,0.00006697673,0.00006135554,0.00004224302,0.00004759164],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.002178418,0.0002454876,0.2681728,0.0003046092,0.0003143799,0.461483,0.001834461,0.0009901723,0.205422,0.002870403,0.002135755,0.05404853],"study_design_scores_gemma":[0.0001759907,0.0006691969,0.5046782,0.00007935863,0.0005630104,0.4507485,0.001277387,0.002172066,0.02830877,0.002845375,0.008409685,0.00007252188],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9934574,0.0007348573,0.001029746,0.0002466541,0.00002521675,0.00003265518,0.0005320695,0.00007516801,0.00386626],"genre_scores_gemma":[0.9985411,0.0001490716,0.0004217722,0.0000297721,0.00002853113,0.000005756787,0.0003327334,0.00001433323,0.0004769575],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003488171,"threshold_uncertainty_score":0.01166916,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03760208478833852,"score_gpt":0.3213706944653631,"score_spread":0.2837686096770246,"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."}}