{"id":"W3184323596","doi":"10.22541/au.161244027.72766594/v1","title":"SLC25A38 Congenital Sideroblastic Anemia: Phenotypes and genotypes of 31 individuals from 24 families, including 11 novel mutations, and a review of the literature","year":2021,"lang":"en","type":"review","venue":"","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"Dalhousie University","funders":"","keywords":"Sideroblastic anemia; Missense mutation; Genetics; Phenotype; Allele; Genotype; Biology; Ineffective erythropoiesis; Genotype-phenotype distinction; Mutation; Disease; Erythropoiesis; Anemia; Gene; Medicine; Pathology; Internal medicine","routes":{"ca_aff":true,"ca_fund":false,"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":[0.0003915359,0.0009538716,0.00144994,0.005140986,0.0002822425,0.000650381,0.0007042704,0.000623443,0.002938506],"category_scores_gemma":[0.0007208078,0.000222297,0.0004213114,0.004345005,0.0002744199,0.0009164753,0.0005538954,0.000656082,0.001879716],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003413487,"about_ca_system_score_gemma":0.0006114519,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008765407,"about_ca_topic_score_gemma":0.001545519,"domain_scores_codex":[0.9997889,0.00002904685,0.00006191783,0.00004245371,0.00005954523,0.00001806223],"domain_scores_gemma":[0.9997051,0.0001431195,0.00005451061,0.00001120281,0.00005459895,0.0000315074],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.00008412211,0.0000460232,0.00134584,0.01669741,0.0002146147,0.004864961,0.0001483299,0.0002518817,0.002477074,0.0006651196,0.02136686,0.9518378],"study_design_scores_gemma":[0.00003303643,0.0001318571,0.01058755,0.008438998,0.0008877224,0.09475432,0.0002643165,0.0001314991,0.001515544,0.001136868,0.882041,0.00007730261],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"review","genre_gemma":"empirical","genre_scores_codex":[0.0009450619,0.9969035,0.000290177,0.0001641745,0.00009221501,0.00000813255,0.0001115461,0.00002319549,0.001461963],"genre_scores_gemma":[0.003122339,0.9949882,0.0006629576,0.0001971217,0.0001215036,0.00001080443,0.0002574239,0.000005981913,0.0006337547],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.005140986,"threshold_uncertainty_score":0.009830296,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02040647978968862,"score_gpt":0.28026965641316,"score_spread":0.2598631766234714,"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."}}