{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001615258,0.0001046793,0.0001747294,0.00005766649,0.000008044021,0.000003323571,0.0001146365,0.0001490928,0.000001824646],"category_scores_gemma":[0.000273054,0.0001023045,0.0000472125,0.00006559811,0.0001154844,0.000001770836,0.00005408755,0.0000482071,6.311279e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":1.767288e-7,"about_ca_system_score_gemma":0.0000481685,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001005549,"about_ca_topic_score_gemma":0.00000685805,"domain_scores_codex":[0.9992015,0.00004892434,0.0001908765,0.0002810626,0.00006636108,0.0002112361],"domain_scores_gemma":[0.9995948,0.00001643503,0.00005168728,0.0001549444,0.00008616504,0.00009595321],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.001376836,0.0003168377,0.1655733,0.0001007732,0.0000805626,0.00001355506,0.0001427137,0.000151616,0.8037596,0.0005372486,0.02414413,0.003802869],"study_design_scores_gemma":[0.002684084,0.002903265,0.05558685,0.000008743586,0.00003812869,0.00003913108,0.00005592122,0.0002071746,0.8848478,0.002013109,0.05131054,0.0003052127],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9951109,0.002484072,0.0001667411,0.001646116,0.00008424798,0.0002231529,0.0000135734,0.000003990847,0.0002672085],"genre_scores_gemma":[0.9977607,0.0002529632,0.0003180293,0.001513249,0.00004627859,0.00003979544,0.00003385633,0.00001423164,0.00002096972],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1099864,"threshold_uncertainty_score":0.4171856,"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."}}