{"id":"W2913577021","doi":"10.1016/j.bbadis.2019.01.021","title":"Genetic, structural, and functional analysis of pathogenic variations causing methylmalonyl-CoA epimerase deficiency","year":2019,"lang":"en","type":"article","venue":"Biochimica et Biophysica Acta (BBA) - Molecular Basis of Disease","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":22,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Universitätsklinikum Erlangen; Medical Research Council; Ministero dello Sviluppo Economico; Novartis Pharma; Universität Zürich; Rigshospitalet; Universiteit van Amsterdam; Ontario Ministry of Economic Development and Innovation; Universitätsklinikum Essen; Genome Canada; Fundação de Amparo à Pesquisa do Estado de São Paulo; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Diamond Light Source; Wellcome Trust; European Federation of Pharmaceutical Industries and Associations; Merck KGaA; Pfizer; National Science Foundation","keywords":"Missense mutation; Methylmalonic acidemia; Genetics; Biology; Recombinant DNA; Molecular biology; Chemistry; Mutation; Biochemistry; Gene; Endocrinology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.000174389,0.0003451633,0.0004794554,0.0003231823,0.0000828262,0.00003783097,0.0002729625,0.0001783162,0.00007238755],"category_scores_gemma":[0.0001615651,0.0003321231,0.000616406,0.0008265483,0.0002894018,0.00001447371,0.0003725436,0.0001461596,0.000003599038],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001723974,"about_ca_system_score_gemma":0.0002620941,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005238359,"about_ca_topic_score_gemma":0.000004058704,"domain_scores_codex":[0.9975009,0.0002250944,0.0005069607,0.0008395077,0.0005393333,0.0003882175],"domain_scores_gemma":[0.9981248,0.00004309322,0.0002905001,0.0009030327,0.0002938382,0.0003447151],"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":[0.00031893,0.000236803,0.0005891832,0.0001089644,0.001054796,0.000005785611,0.00002432013,0.000217634,0.9967863,0.0003930177,0.00004023337,0.0002240586],"study_design_scores_gemma":[0.0005877362,0.0002015398,0.08668743,0.0000198963,0.001374351,0.000002398152,0.00002033515,0.001058166,0.909525,0.0001495343,0.00002449322,0.0003491306],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.995677,0.001232909,0.001700769,0.0003276437,0.00005428049,0.0003927549,0.0005283381,0.00001294974,0.00007335237],"genre_scores_gemma":[0.9970027,0.0001981082,0.001651466,0.0002454297,0.00003624032,0.00002542027,0.0007647812,0.00004283843,0.00003308183],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.08726128,"threshold_uncertainty_score":0.9999131,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009013602958645362,"score_gpt":0.2563265808463354,"score_spread":0.24731297788769,"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."}}