{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001192652,0.0004170066,0.0001728107,0.0003266026,0.0001607784,0.0002078262,0.0001536021,0.0003582503,0.0005784624],"category_scores_gemma":[0.0004150936,0.0001414627,0.0003410919,0.0002539326,0.0001771737,0.00008201742,0.0001435829,0.0002384173,0.0001772672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001533896,"about_ca_system_score_gemma":0.00006995151,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007019252,"about_ca_topic_score_gemma":0.0004990872,"domain_scores_codex":[0.9998823,0.0000209478,0.00001611678,0.00003429649,0.00003016647,0.00001621239],"domain_scores_gemma":[0.9998482,0.00004641857,0.00003651603,0.00001569666,0.00001366212,0.00003943665],"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":[0.0006717561,0.000130955,0.05914797,0.00006589639,0.0001296581,0.007957792,0.0003048274,0.000570472,0.9228676,0.0001593568,0.000126451,0.00786723],"study_design_scores_gemma":[0.0001366148,0.001463913,0.6217467,0.00002803054,0.0003764819,0.07214975,0.0003681053,0.006113338,0.2941252,0.0003265337,0.003121738,0.00004364591],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.999415,0.0001152834,0.0002550484,0.00001288238,0.000002349437,0.000003345774,0.00007861909,0.000005249494,0.0001120559],"genre_scores_gemma":[0.9991768,0.00007173577,0.0004651486,0.00001281919,0.000003930808,0.000002224837,0.0001730525,0.00000524559,0.00008901246],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0007019252,"threshold_uncertainty_score":0.001935124,"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."}}