{"id":"W4387054222","doi":"10.3390/genes14101860","title":"Novel Genetic and Phenotypic Expansion in GOSR2-Related Progressive Myoclonus Epilepsy","year":2023,"lang":"en","type":"article","venue":"Genes","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":13,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"Deutsche Forschungsgemeinschaft","keywords":"Progressive myoclonus epilepsy; Epilepsy; Phenotype; Myoclonus; Biology; Genetics; Neuroscience; Medicine; Evolutionary biology; 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":[0.0001598857,0.001384463,0.0004257651,0.0008987504,0.000453059,0.0002667595,0.0003383991,0.0008642924,0.002258656],"category_scores_gemma":[0.0008029561,0.0002490093,0.0004405699,0.0004464741,0.0005212238,0.0002149293,0.0007661646,0.000408508,0.0004706164],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002433185,"about_ca_system_score_gemma":0.0002961965,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009021375,"about_ca_topic_score_gemma":0.001747903,"domain_scores_codex":[0.9997422,0.00004339744,0.00003005499,0.00008340365,0.00005549849,0.00004545519],"domain_scores_gemma":[0.9996878,0.00007609191,0.00009923564,0.00002405918,0.00002795836,0.00008483219],"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":[0.0003068004,0.00008914906,0.03457255,0.0001006255,0.0000618464,0.886986,0.0004460794,0.0002800948,0.06967114,0.0004344834,0.0004990826,0.006552176],"study_design_scores_gemma":[0.00006433384,0.0002667377,0.0923438,0.00001584459,0.0000568004,0.899722,0.0001085514,0.0005528687,0.005318491,0.0001632724,0.001362337,0.00002496618],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961863,0.0002612836,0.0007428423,0.0001327943,0.00001691304,0.00004346859,0.0002182604,0.00006750323,0.002330674],"genre_scores_gemma":[0.9979798,0.0001528859,0.0007070802,0.0001164064,0.00005770291,0.00001802831,0.0002461997,0.00002406994,0.0006978145],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002258656,"threshold_uncertainty_score":0.007555962,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01576731018456656,"score_gpt":0.2662257250734295,"score_spread":0.2504584148888629,"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."}}