{"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,"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."}}