{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001691366,0.000323158,0.001089013,0.00005709214,0.00006169634,0.0000295412,0.0002211101,0.0003155079,0.00001896505],"category_scores_gemma":[0.0004656068,0.0002121283,0.0002287433,0.000248976,0.0001945291,0.000006467015,0.0004398159,0.0001632775,4.273323e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004469128,"about_ca_system_score_gemma":0.0002987709,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005979897,"about_ca_topic_score_gemma":0.0000444371,"domain_scores_codex":[0.9985671,0.0001283881,0.000588613,0.0004106388,0.0001581495,0.0001470967],"domain_scores_gemma":[0.9988879,0.0001197197,0.0004069696,0.0003965046,0.0001351777,0.00005376023],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00001924496,0.000448855,0.001289355,0.365965,0.002968487,0.00000996577,0.000915481,0.000002988197,0.01261952,0.002436378,0.008860149,0.6044645],"study_design_scores_gemma":[0.000500901,0.00004658514,0.0002548611,0.0519944,0.00281576,0.00005449657,0.0002025606,7.315028e-7,0.0008423862,0.0001298594,0.9426378,0.0005196837],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.003900595,0.9940757,0.00004787782,0.00002303539,0.0001066239,0.0004594,0.001181286,0.00000406609,0.0002014812],"genre_scores_gemma":[0.0006335099,0.9962131,0.001510973,0.0001741928,0.00006576409,0.00002734462,0.001215201,0.00002502181,0.0001348808],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9337776,"threshold_uncertainty_score":0.8650341,"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."}}