{"id":"W1911435789","doi":"10.1002/ana.24485","title":"Biochemical and molecular predictors for prognosis in nonketotic hyperglycinemia","year":2015,"lang":"en","type":"article","venue":"Annals of Neurology","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":109,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"National Center for Advancing Translational Sciences; National Institute of Neurological Disorders and Stroke; National Institutes of Health; Children's Hospital Colorado","keywords":"Hyperglycinemia; Missense mutation; Medicine; Internal medicine; Endocrinology; Pediatrics; Glycine; Mutation; Genetics; Biology; Gene; Amino acid","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":[0.0004297468,0.0003827598,0.0002370894,0.0008244829,0.0002385824,0.0003633363,0.0002103146,0.0003497797,0.001363842],"category_scores_gemma":[0.002316813,0.00009435611,0.0002706283,0.0005022546,0.0003128451,0.0002739791,0.0002670109,0.0003434948,0.0003046743],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001738376,"about_ca_system_score_gemma":0.0002171165,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007903802,"about_ca_topic_score_gemma":0.0007302201,"domain_scores_codex":[0.9997926,0.00004362291,0.00003481054,0.00003931834,0.00003827944,0.00005140908],"domain_scores_gemma":[0.9984546,0.0003564774,0.0006117762,0.00004928347,0.0001779981,0.0003499045],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001178775,0.000005900223,0.9982404,0.000003494243,0.000009201522,0.0002693971,0.00001367483,0.00006034998,0.0002525098,0.000006849249,0.00003188322,0.0009884369],"study_design_scores_gemma":[0.000007969332,0.0001654157,0.9958966,0.00001171574,0.00002482715,0.002716891,0.00009964131,0.0005031353,0.0003816427,0.00005904583,0.0001281381,0.00000513218],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991459,0.0003257051,0.0001432505,0.00003703572,0.000005947682,0.000004089041,0.0001018097,0.000005460967,0.0002307847],"genre_scores_gemma":[0.9996954,0.00005627454,0.00006226975,0.000004317656,0.000006669819,0.000002067931,0.000133637,0.000001209416,0.00003811621],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001363842,"threshold_uncertainty_score":0.004562497,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03370988706173728,"score_gpt":0.2926127273488656,"score_spread":0.2589028402871283,"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."}}