{"id":"W1977142594","doi":"10.1038/ng.359","title":"Mutations in mitochondrial carrier family gene SLC25A38 cause nonsyndromic autosomal recessive congenital sideroblastic anemia","year":2009,"lang":"en","type":"article","venue":"Nature Genetics","topic":"Porphyrin Metabolism and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":247,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre Hospitalier Universitaire Sainte-Justine; Université de Montréal; Izaak Walton Killam Health Centre; Dalhousie University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Sideroblastic anemia; Biology; Genetics; Positional cloning; Mutation; Gene; Mitochondrial DNA; Mitochondrion; Phenotype","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00006147102,0.0002982678,0.0002481303,0.0001281047,0.00009573188,0.00004751592,0.0003078712,0.0007191634,0.00001775162],"category_scores_gemma":[0.0001805654,0.0003100649,0.0001124741,0.0002460792,0.0001060485,0.000008054418,0.0000666105,0.0004459184,0.00001643996],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002323353,"about_ca_system_score_gemma":0.0002599957,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001330401,"about_ca_topic_score_gemma":0.0001367661,"domain_scores_codex":[0.9983398,0.0000744607,0.0003449151,0.0005518341,0.0002341588,0.0004548743],"domain_scores_gemma":[0.9991301,0.00001974508,0.0001050088,0.0004582101,0.0001239303,0.000162954],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0001573116,0.0001451871,0.002950697,0.00001066183,0.00005660739,0.00008941461,0.000153952,0.002000633,0.9892676,0.00005277054,0.003449544,0.001665598],"study_design_scores_gemma":[0.009747781,0.001284583,0.4363004,0.00005348011,0.0004717938,0.0003775385,0.0005811512,0.000809846,0.5208557,0.002964102,0.02425138,0.002302283],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9869831,0.0102418,0.0004298063,0.0001219301,0.0008958009,0.0003269929,0.0001857151,0.00002467901,0.0007901753],"genre_scores_gemma":[0.9929688,0.0004470113,0.004435553,0.0008827561,0.0005270717,0.00002017126,0.0004407626,0.00003278333,0.0002451092],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4684119,"threshold_uncertainty_score":0.9999352,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005644872565031728,"score_gpt":0.2488509242609681,"score_spread":0.2432060516959363,"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."}}