{"id":"W1981093010","doi":"10.1182/blood-2014-08-591370","title":"Mutations in TRNT1 cause congenital sideroblastic anemia with immunodeficiency, fevers, and developmental delay (SIFD)","year":2014,"lang":"en","type":"article","venue":"Blood","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":180,"is_retracted":false,"has_abstract":true,"ca_institutions":"Concordia University; SickKids Foundation; University of Toronto; Newborn Screening Ontario; Children's Hospital of Eastern Ontario; Hospital for Sick Children; University of Ottawa","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; Natural Sciences and Engineering Research Council of Canada; National Institutes of Health; University of Ottawa; National Institute for Social Care and Health Research; University of Washington; Canadian Institutes of Health Research; Cancer Research Society; Ohio State University","keywords":"Sideroblastic anemia; Immunodeficiency; Primary immunodeficiency; Mutation; Anemia; Medicine; Severe combined immunodeficiency; Immunology; Pediatrics; Biology; Genetics; Internal medicine; Gene; Immune system","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":[0.0001160593,0.0007920986,0.0002023593,0.0005199934,0.000208774,0.0001844002,0.0002271088,0.0004001321,0.0009563818],"category_scores_gemma":[0.0003584213,0.000134351,0.0001795896,0.0002626692,0.0003268733,0.0001208408,0.000318458,0.0003000277,0.0003217836],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002137363,"about_ca_system_score_gemma":0.0001589512,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006534294,"about_ca_topic_score_gemma":0.0009310215,"domain_scores_codex":[0.9998881,0.00001390779,0.00001394466,0.00003557846,0.00003398484,0.00001452305],"domain_scores_gemma":[0.9998314,0.00003566443,0.00006128282,0.000008093974,0.000009435743,0.00005407555],"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":[0.0006338807,0.00010523,0.01979626,0.0001594581,0.00005754887,0.04317061,0.000274133,0.0008833072,0.9149344,0.0007509461,0.0007744213,0.01845977],"study_design_scores_gemma":[0.0002173601,0.001094102,0.1293825,0.00008220404,0.0001881847,0.41657,0.0002269166,0.005890721,0.4349542,0.0006906735,0.01064297,0.00006009985],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9957613,0.000741721,0.001883538,0.0001232564,0.00002066093,0.00001780836,0.0004119804,0.0001131064,0.0009265653],"genre_scores_gemma":[0.9970458,0.000405554,0.001609621,0.00002826272,0.00001145015,0.000007349611,0.0002668308,0.00001390712,0.0006112458],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0009563818,"threshold_uncertainty_score":0.003199458,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.004579479779621217,"score_gpt":0.1964523321062901,"score_spread":0.1918728523266689,"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."}}