{"id":"W2063733110","doi":"10.1086/302765","title":"Mutations in the AIRE Gene: Effects on Subcellular Location and Transactivation Function of the Autoimmune Polyendocrinopathy-Candidiasis–Ectodermal Dystrophy Protein","year":2000,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":361,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"University of British Columbia; Ludwig Institute for Cancer Research; Cancer Research Institute","keywords":"Chronic mucocutaneous candidiasis; Biology; Missense mutation; Gene; Transactivation; Nonsense mutation; Genetics; Transcription (linguistics); Mutation; Transcription factor; Disease; Medicine; Internal medicine","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003157083,0.001388445,0.000457487,0.0008449669,0.000594985,0.0003830671,0.0005550004,0.001361332,0.00320366],"category_scores_gemma":[0.0008841892,0.0003211529,0.0005621248,0.0004240778,0.001516552,0.0002700406,0.0005897766,0.0009719432,0.0005607202],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000438548,"about_ca_system_score_gemma":0.0002995029,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00140539,"about_ca_topic_score_gemma":0.001756822,"domain_scores_codex":[0.9996007,0.0001128529,0.00008722147,0.00007516208,0.00007239656,0.00005160196],"domain_scores_gemma":[0.9987551,0.0006908735,0.0002009401,0.00009718745,0.00004018008,0.0002157378],"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":[0.002314801,0.000178387,0.002574611,0.0001064945,0.0001213649,0.01281504,0.0001788207,0.0005194383,0.9753944,0.001227203,0.0002224988,0.004346845],"study_design_scores_gemma":[0.001322233,0.00104867,0.07535373,0.00009785983,0.0006764671,0.07452466,0.0004136985,0.007079275,0.8308775,0.001531333,0.00694524,0.0001293204],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9961914,0.0007833565,0.00144242,0.0002547301,0.00007833449,0.00001749503,0.0002749641,0.0001018522,0.0008553732],"genre_scores_gemma":[0.998289,0.0002397474,0.0007012143,0.00004677788,0.00002394883,0.000008790887,0.00009205425,0.00005300603,0.0005453457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00320366,"threshold_uncertainty_score":0.01071733,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006152939780876413,"score_gpt":0.2281717437256556,"score_spread":0.2220188039447792,"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."}}