{"id":"W3049473774","doi":"10.1002/pbc.28623","title":"Clinical characterization and hematopoietic stem cell transplant outcomes for congenital sideroblastic anemia caused by a novel pathogenic variant in <i>SLC25A38</i>","year":2020,"lang":"en","type":"article","venue":"Pediatric Blood & Cancer","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"CancerCare Manitoba; University of Manitoba","funders":"","keywords":"Sideroblastic anemia; Medicine; Hematopoietic stem cell transplantation; Anemia; Missense mutation; Pyridoxine; Etiology; Haematopoiesis; Pediatrics; Stem cell; Internal medicine; Transplantation; Phenotype; Gene; Genetics; Biology","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"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":[0.0002148074,0.0003746211,0.0001666175,0.0003866042,0.0005375876,0.0003212794,0.0003753938,0.0003678568,0.001116507],"category_scores_gemma":[0.0007280559,0.00009454183,0.0001536825,0.0003468065,0.0005283019,0.0001541169,0.0002121627,0.0004247949,0.0001591738],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001117268,"about_ca_system_score_gemma":0.001111904,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.03712687,"about_ca_topic_score_gemma":0.03807513,"domain_scores_codex":[0.9998482,0.00001112725,0.00001122327,0.00003468079,0.0000384126,0.00005630849],"domain_scores_gemma":[0.9995359,0.00006432411,0.0001458741,0.00001563753,0.00007086377,0.0001673939],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.000355901,0.0000832103,0.9570127,0.00001392848,0.00001540084,0.02957091,0.0003535162,0.0001498498,0.00771971,0.00008593146,0.0003326254,0.004306199],"study_design_scores_gemma":[0.00001742985,0.0003308903,0.9353588,0.000009247941,0.00002098465,0.06225891,0.0002621532,0.0003562191,0.001037028,0.00003842659,0.000301526,0.000008406369],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991038,0.00004831778,0.00005355978,0.00003006045,0.000001598996,0.00001128781,0.00008924207,0.000004160824,0.0006579596],"genre_scores_gemma":[0.9996597,0.00002328763,0.00007112564,0.0000131516,0.00000285682,0.000002928369,0.0001445344,0.000001782509,0.00008070521],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03712687,"threshold_uncertainty_score":0.07382154,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01230910771410177,"score_gpt":0.2427492634438315,"score_spread":0.2304401557297297,"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."}}