{"id":"W3005695810","doi":"10.1002/jimd.12222","title":"A missense variant remote from the active site impairs stability of human phosphoglucomutase 1","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Glycogen Storage Diseases and Myoclonus","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"National Institute of General Medical Sciences; American Heart Association; U.S. Department of Energy; National Institutes of Health; National Science Foundation","keywords":"Missense mutation; Biology; Phosphoglucomutase; Active site; Biochemistry; Genetics; Enzyme; Mutation; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003117918,0.000275337,0.0008388521,0.00006682535,0.00009973322,0.0000304291,0.0002568006,0.00006942565,0.0008634302],"category_scores_gemma":[0.001230273,0.0001784825,0.0007888862,0.0004712127,0.0001727017,0.0001604611,0.00008210813,0.0004436459,0.00001101607],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004115508,"about_ca_system_score_gemma":0.0005477808,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004489532,"about_ca_topic_score_gemma":0.000007782513,"domain_scores_codex":[0.9976151,0.0002533316,0.000892373,0.0002757686,0.0006828337,0.0002805818],"domain_scores_gemma":[0.9964233,0.0001510394,0.0007679876,0.0005334046,0.0006580443,0.001466229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.09215835,0.006112115,0.01904682,0.000846011,0.005968149,0.09684143,0.01913012,0.0000752755,0.6992109,0.0004392326,0.01656941,0.04360216],"study_design_scores_gemma":[0.0213945,0.002045603,0.8623644,0.0009682589,0.01540224,0.001241585,0.00715037,0.001765503,0.03337526,0.0009368856,0.05239263,0.0009628278],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.983434,0.01120949,0.0001385681,0.003596089,0.0001511514,0.0004208131,0.0009419049,0.00002389876,0.00008413154],"genre_scores_gemma":[0.994598,0.0002677995,0.0006071331,0.003792581,0.0006181548,0.000002207274,0.00006436609,0.00003829306,0.00001147359],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8433175,"threshold_uncertainty_score":0.9453955,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02789812850343478,"score_gpt":0.2762037436240555,"score_spread":0.2483056151206207,"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."}}