{"id":"W4409210754","doi":"10.1038/s41598-025-95590-x","title":"The role of genetic testing in accurate diagnosis of X-linked sideroblastic anemia: novel ALAS2 mutations and the impact of X-chromosome inactivation","year":2025,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"Institute of Genetics","funders":"Agencia Estatal de Investigación; José Carreras Leukämie-Stiftung; Ministerio de Ciencia e Innovación","keywords":"Sideroblastic anemia; Genetics; X chromosome; Genetic testing; Biology; Mutation; Computational biology; Bioinformatics; Gene","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":[0.0005916563,0.00007369773,0.0001456382,0.00007420504,0.00009631235,0.00002458686,0.00009386687,0.00004691504,0.000001672056],"category_scores_gemma":[0.001782625,0.00004495133,0.00005946301,0.0004252161,0.0005213062,0.000006637695,0.00007253932,0.000042501,5.58213e-8],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005938606,"about_ca_system_score_gemma":0.0002056389,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002685093,"about_ca_topic_score_gemma":0.00005056163,"domain_scores_codex":[0.999063,0.00004667803,0.000453629,0.0002128834,0.0001124696,0.0001113884],"domain_scores_gemma":[0.9988566,0.0001913516,0.0004054781,0.0003503309,0.0001787942,0.00001743151],"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":[0.00002938151,0.00007088552,0.1215549,0.00002688706,0.00002628638,8.676582e-7,0.0001295692,0.004105328,0.8717143,0.0001058797,0.00005660265,0.002179146],"study_design_scores_gemma":[0.0007846379,0.0000578291,0.5089402,0.00008367897,0.00005246082,0.00001826699,0.0005657732,0.001814996,0.4717467,0.01571937,0.0001213123,0.00009488408],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974607,0.001612544,0.0001978152,0.00002699758,0.0001760393,0.000228524,0.000006201056,0.000001827513,0.0002894146],"genre_scores_gemma":[0.9996442,0.00005657826,0.0002047652,0.000002896595,0.000007217434,0.00002945357,0.00001558064,0.000003771108,0.00003550816],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.3999676,"threshold_uncertainty_score":0.2134097,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008425130629363373,"score_gpt":0.2612196199071612,"score_spread":0.2527944892777979,"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."}}