{"id":"W2896635171","doi":"10.1007/8904_2018_139","title":"A Novel Truncating FLAD1 Variant, Causing Multiple Acyl-CoA Dehydrogenase Deficiency (MADD) in an 8-Year-Old Boy","year":2018,"lang":"en","type":"article","venue":"JIMD Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":38,"is_retracted":false,"has_abstract":false,"ca_institutions":"SickKids Foundation; University of Toronto; Hospital for Sick Children","funders":"Fondazione Cassa di Risparmio di Puglia; Danmarks Frie Forskningsfond","keywords":"Riboflavin; Flavoprotein; Missense mutation; Acyl CoA dehydrogenase; Genetics; Flavin adenine dinucleotide; Flavin group; Haploinsufficiency; Biology; Phenotype; Endocrinology; Internal medicine; Biochemistry; Medicine; Gene; Dehydrogenase; Cofactor; Enzyme","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":[0.0005231044,0.0002225869,0.0002182937,0.00008802417,0.0001427068,0.00005710956,0.0001361869,0.0001824461,0.00003968641],"category_scores_gemma":[0.0004110022,0.0002164294,0.00008530461,0.000230252,0.00009866687,0.00001246555,0.0001370201,0.00009886406,0.000008934935],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000007719027,"about_ca_system_score_gemma":0.0001695393,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000414196,"about_ca_topic_score_gemma":0.00135436,"domain_scores_codex":[0.9980313,0.00005065759,0.0005197179,0.0007233151,0.000213703,0.0004613129],"domain_scores_gemma":[0.9986791,0.000008527644,0.0002318553,0.000810768,0.00011942,0.0001503226],"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":[0.00004155588,0.0002901822,0.05451936,0.00001989274,0.0000165759,0.0001703941,0.0003520162,0.0001323176,0.9414002,0.00003663724,0.0003378983,0.002682931],"study_design_scores_gemma":[0.003365342,0.0007128143,0.1151462,0.00009868846,0.0001228053,0.002258502,0.001522122,0.003645683,0.8380685,0.0005531317,0.03278768,0.00171851],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9941963,0.0004177149,0.002544992,0.00005169375,0.0004617233,0.0002615938,0.000009663401,0.00002328748,0.00203301],"genre_scores_gemma":[0.9934822,0.00002584177,0.005297173,0.0002701828,0.0003690039,0.00002506536,0.000109549,0.00003839958,0.0003825225],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1033317,"threshold_uncertainty_score":0.8825733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01396869799941012,"score_gpt":0.2621090112236867,"score_spread":0.2481403132242766,"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."}}