{"id":"W2902109061","doi":"10.1101/484048","title":"Genetic, structural, and functional analysis of mutations causing methylmalonyl-CoA epimerase deficiency","year":2018,"lang":"en","type":"preprint","venue":"bioRxiv (Cold Spring Harbor Laboratory)","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Universitätsklinikum Erlangen; 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; Mutation; Nonsense mutation; Genetics; Biology; Methylmalonic acidemia; Molecular biology; Biochemistry; Chemistry; 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":[0.0002829632,0.0003587127,0.0004413988,0.0003528548,0.0001574489,0.00007802689,0.0002289713,0.0005014864,0.00006219625],"category_scores_gemma":[0.0002490507,0.0003643541,0.00024849,0.0006395027,0.0004532051,0.000005734949,0.0006663283,0.0003016146,0.000003428875],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003705097,"about_ca_system_score_gemma":0.000367985,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00008721412,"about_ca_topic_score_gemma":0.000008017086,"domain_scores_codex":[0.9977208,0.0001276993,0.0004397737,0.0009600702,0.0003602636,0.0003913785],"domain_scores_gemma":[0.997923,0.00002474049,0.0002624493,0.0008591128,0.0006980904,0.0002326566],"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":[0.00003729221,0.00004685265,0.007287635,0.0001133137,0.0008317241,0.00000922145,0.000003093494,0.0002262475,0.9912857,0.00005254828,0.000102587,0.000003777175],"study_design_scores_gemma":[0.0002407578,0.00007674946,0.1401571,0.00003089226,0.0008353184,6.193838e-8,0.000002046908,0.0009716109,0.8569182,0.000004199711,0.000362483,0.0004006239],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9879467,0.003406275,0.007736445,0.00005493093,0.0001867117,0.0002796852,0.0003574978,0.00002513215,0.000006563607],"genre_scores_gemma":[0.9923858,0.0002630748,0.006938859,0.0000808332,0.0002177523,0.00004763641,0.00001077049,0.00005005004,0.000005240734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1343676,"threshold_uncertainty_score":0.9998809,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01603621270280787,"score_gpt":0.2570273865282566,"score_spread":0.2409911738254488,"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."}}