{"id":"W2922784032","doi":"10.1002/jimd.12087","title":"Phosphoglycerate kinase deficiency: A nationwide multicenter retrospective study","year":2019,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Advanced Foods and Materials Canada","keywords":"Medicine; Phosphoglycerate kinase; Microcephaly; Polyneuropathy; Retinitis pigmentosa; Pediatrics; Myopathy; Internal medicine; Genetics; Biology; Gene","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003676813,0.0002539111,0.0006495435,0.0003341131,0.00007153535,0.00006510499,0.0001800822,0.0000483035,0.0007232289],"category_scores_gemma":[0.0004868862,0.0001955302,0.0004452771,0.0005680973,0.00004558103,0.0002995321,0.00005202078,0.0003220796,0.0001192906],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000932193,"about_ca_system_score_gemma":0.0004585892,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000270447,"about_ca_topic_score_gemma":0.000002198828,"domain_scores_codex":[0.9977231,0.0001065245,0.0006810786,0.0002928197,0.0008729824,0.0003234798],"domain_scores_gemma":[0.9971823,0.00002540038,0.0004726287,0.0004156243,0.001080941,0.0008230846],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.01154323,0.009766028,0.9473587,0.0001688474,0.0008201835,0.01237754,0.001451935,0.0001069078,0.01100134,0.0004110603,0.001382731,0.003611452],"study_design_scores_gemma":[0.01001939,0.0007949377,0.9766472,0.0001385298,0.001508833,0.0001623163,0.001235281,0.0002445017,0.0002221376,0.00006737582,0.008727785,0.0002316931],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.990507,0.006830768,0.00003988084,0.0002939071,0.0007499744,0.0009390792,0.00004260507,0.00003095942,0.0005657973],"genre_scores_gemma":[0.9972831,0.0001862229,0.000310829,0.001110755,0.0002893862,0.00001504869,0.000008669954,0.00004230893,0.0007536542],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02928847,"threshold_uncertainty_score":0.7973489,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009414002034925283,"score_gpt":0.2686729586868755,"score_spread":0.2592589566519503,"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."}}