{"id":"W2914870447","doi":"10.1182/blood-2018-99-110343","title":"Clinical Characterization of a Novel Mutation in SLC25A38 Resulting in Congenital Sideroblastic Anemia in a Canadian First Nations Population","year":2018,"lang":"en","type":"article","venue":"Blood","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Manitoba","funders":"","keywords":"Medicine; Anemia; Population; Missense mutation; Thalassemia; Sideroblastic anemia; Internal medicine; Mutation; Pediatrics; Immunology; 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":[0.0002120198,0.0007076377,0.0002619297,0.001775758,0.002762,0.0004743707,0.0009189726,0.0005591452,0.003874274],"category_scores_gemma":[0.0008589407,0.0002315605,0.0002817938,0.00184537,0.0007935067,0.0001468995,0.0005991217,0.0005032221,0.0003040846],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00572588,"about_ca_system_score_gemma":0.01039758,"about_ca_topic_candidate":true,"about_ca_topic_consensus":true,"about_ca_topic_score_codex":0.8756794,"about_ca_topic_score_gemma":0.9035118,"domain_scores_codex":[0.9995611,0.00001577128,0.00002031979,0.00008419636,0.0001940579,0.0001244528],"domain_scores_gemma":[0.9994174,0.00004408322,0.00008483003,0.00001491281,0.0002378069,0.0002009225],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0002532611,0.0002522233,0.7417876,0.0001678254,0.00006930697,0.2016455,0.005315048,0.0003522156,0.02446006,0.0009898804,0.005498771,0.01920826],"study_design_scores_gemma":[0.00003207435,0.0002276073,0.8388143,0.0000805797,0.00005618523,0.1504075,0.003203097,0.0005413124,0.001239886,0.0001200895,0.005217314,0.00005997834],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9910364,0.0003400294,0.0001752291,0.0003839265,0.00001607089,0.00009258843,0.001262335,0.00001878529,0.006674631],"genre_scores_gemma":[0.9978897,0.0002060237,0.0003774141,0.0001497503,0.000007565975,0.00001000088,0.0003993424,0.000006978796,0.0009532181],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1243206,"threshold_uncertainty_score":0.2501055,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01185374437772148,"score_gpt":0.2712408518550632,"score_spread":0.2593871074773418,"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."}}