{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0009856884,0.0003805473,0.0005698202,0.00111479,0.000893675,0.0007650316,0.0003904523,0.0006518784,0.002028703],"category_scores_gemma":[0.001759432,0.0005885591,0.0004545624,0.002105463,0.0004229725,0.000807771,0.0006745067,0.0004030239,0.0005021294],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006476948,"about_ca_system_score_gemma":0.0007178012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.009851041,"about_ca_topic_score_gemma":0.01019026,"domain_scores_codex":[0.998801,0.0002931901,0.0001633415,0.0004389484,0.0001449863,0.0001584779],"domain_scores_gemma":[0.9984251,0.0002511855,0.0006142667,0.0002156045,0.0002273708,0.0002665597],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00005811037,0.00003532757,0.9988838,0.000008213368,0.00004264379,0.000272377,0.00007276901,0.00001151135,0.0001326974,0.0000123835,0.00006994432,0.0004002113],"study_design_scores_gemma":[0.0000316149,0.0002314436,0.996269,0.00001198852,0.00009341824,0.002173435,0.0004831967,0.0001414689,0.00005673694,0.00002071607,0.0004754546,0.00001141234],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9988093,0.0002254327,0.0000778617,0.00002501082,0.00000324759,0.00002064956,0.0004614423,0.000003802398,0.0003732985],"genre_scores_gemma":[0.9988544,0.0001631052,0.00009107595,0.00006129245,0.00001040888,0.00002932719,0.0007032544,0.000003271823,0.00008392566],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009851041,"threshold_uncertainty_score":0.0195874,"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."}}