{"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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":["metaepi_narrow"],"category_scores_codex":[0.0009892088,0.001389629,0.001659325,0.0009896645,0.0005403833,0.0003161443,0.001943217,0.0005430079,0.000139846],"category_scores_gemma":[0.002294871,0.001313208,0.0005206541,0.001375164,0.0008095989,0.0003120365,0.001244961,0.0009143167,0.0005818507],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005402982,"about_ca_system_score_gemma":0.0007023655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003122044,"about_ca_topic_score_gemma":0.0006614693,"domain_scores_codex":[0.9905192,0.0004446602,0.002521388,0.002105709,0.001879054,0.002530021],"domain_scores_gemma":[0.9943744,0.0007682823,0.0009066285,0.00228434,0.0004648239,0.001201553],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001075177,0.0003436365,0.0004864128,0.0002612066,0.0001018643,0.0001441464,0.005732794,0.01328215,0.9674882,0.002110984,0.009524452,0.0005134537],"study_design_scores_gemma":[0.03651963,0.004042842,0.06949445,0.001826062,0.002341453,0.0006130973,0.01925145,0.08373701,0.3212958,0.01975786,0.4389952,0.002125134],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9468168,0.01727609,0.01840335,0.000320017,0.001794964,0.002569333,0.00007714629,0.0002158966,0.01252638],"genre_scores_gemma":[0.9800791,0.0009131828,0.005823021,0.003049416,0.001167085,0.0005001801,0.0004243179,0.0003592474,0.007684417],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6461923,"threshold_uncertainty_score":0.9998854,"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."}}