{"id":"W2142473627","doi":"10.1002/mgg3.46","title":"Exome sequencing identifies <i><scp>NFS</scp>1</i> deficiency in a novel Fe‐S cluster disease, infantile mitochondrial complex <scp>II</scp>/<scp>III</scp> deficiency","year":2013,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"Metalloenzymes and iron-sulfur proteins","field":"Energy","cited_by":92,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; Children’s Health Research Institute; SickKids Foundation; University of Toronto; London Health Sciences Centre; Western University","funders":"Canadian Institutes of Health Research; Genome Canada; Ontario Genomics; Ontario Genomics Institute; Government of Canada; Heart and Stroke Foundation of Canada","keywords":"Exome sequencing; Hypotonia; Biology; Mitochondrial respiratory chain; Mitochondrial disease; Genetics; Respiratory chain; Mutation; Mitochondrion; Exome; Sideroblastic anemia; Biochemistry; Mitochondrial DNA; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00009457032,0.0004615566,0.0002692013,0.0006215785,0.0002462782,0.0002958688,0.0001831049,0.0006991023,0.001149053],"category_scores_gemma":[0.0004219572,0.0001019226,0.0003092436,0.0002695046,0.0002369584,0.000128043,0.0002672399,0.0002935679,0.0002465018],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001823078,"about_ca_system_score_gemma":0.00009128336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009784069,"about_ca_topic_score_gemma":0.001440536,"domain_scores_codex":[0.9998987,0.000008778567,0.00001153428,0.00003592093,0.00002810018,0.00001694013],"domain_scores_gemma":[0.9998749,0.00003923696,0.00002899381,0.000007649161,0.00001479481,0.00003435035],"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":[0.0008372596,0.0001379944,0.1106871,0.0001459933,0.0001107999,0.1045958,0.0008120045,0.000585351,0.757129,0.0004613979,0.00116039,0.02333701],"study_design_scores_gemma":[0.00008699046,0.0005392629,0.5507836,0.0001014602,0.0003009935,0.2522185,0.0005282323,0.005367424,0.1788283,0.0007444028,0.01045608,0.0000447956],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9977942,0.0001674165,0.0009146933,0.00008294516,0.000008733522,0.00001505995,0.0004401701,0.00002369101,0.0005530635],"genre_scores_gemma":[0.9969745,0.0001792638,0.00125181,0.00008170971,0.0000131798,0.00001187602,0.0007445471,0.00001661727,0.0007265029],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001149053,"threshold_uncertainty_score":0.003843963,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01858618492191966,"score_gpt":0.2320540814420689,"score_spread":0.2134678965201493,"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."}}