{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001766031,0.00246083,0.001055363,0.001389306,0.001962469,0.0008259549,0.001073512,0.002449936,0.002382918],"category_scores_gemma":[0.001347215,0.000668314,0.0008582,0.0008518476,0.001463876,0.0008591314,0.0009369839,0.001966763,0.0005116097],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005794745,"about_ca_system_score_gemma":0.0006370628,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003784224,"about_ca_topic_score_gemma":0.002272995,"domain_scores_codex":[0.9996268,0.00002280103,0.00004118209,0.0001555017,0.00005160724,0.0001020786],"domain_scores_gemma":[0.9990839,0.0003296638,0.0001537434,0.00002823953,0.00006201008,0.0003424446],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00009615277,0.00003456093,0.004054722,0.00004142793,0.000009822241,0.9872668,0.0002997374,0.0001137933,0.006528344,0.0002500963,0.0001949466,0.001109528],"study_design_scores_gemma":[0.00003177902,0.0002327466,0.01574005,0.00002640124,0.00006685789,0.9774925,0.0003362704,0.0005043927,0.00407743,0.0002021052,0.001258933,0.00003045875],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9920185,0.001311139,0.001883568,0.001401996,0.0002709751,0.00005105391,0.0006301763,0.0001705098,0.002262207],"genre_scores_gemma":[0.9969149,0.0003942022,0.0008971937,0.0002500134,0.0001313811,0.00001438171,0.0001340536,0.0000326286,0.001231227],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003784224,"threshold_uncertainty_score":0.007971585,"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."}}