{"id":"W2080917287","doi":"10.1111/j.1399-0004.2009.01278.x","title":"Novel and recurrent mutations in the <i>AIRE</i> gene of autoimmune polyendocrinopathy syndrome type 1 (APS1) patients","year":2009,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":29,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Queen's University","funders":"","keywords":"Autoimmune regulator; Chronic mucocutaneous candidiasis; Medicine; Hypoparathyroidism; Mutation; Autoimmune disease; Genetics; Internal medicine; Gene; Biology; Disease","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001842202,0.001020147,0.0004297945,0.0009069563,0.0006432361,0.0005047553,0.0003103743,0.000774703,0.002726093],"category_scores_gemma":[0.001276085,0.000315151,0.0003327797,0.0004858197,0.0005061204,0.0003015932,0.0003247456,0.000391635,0.0003661647],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002288987,"about_ca_system_score_gemma":0.0001360134,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0005899165,"about_ca_topic_score_gemma":0.0005058585,"domain_scores_codex":[0.9997032,0.00004114332,0.00004287279,0.0001088296,0.00005370636,0.0000500817],"domain_scores_gemma":[0.9994881,0.0001614639,0.00021022,0.00002412996,0.00003075633,0.00008537821],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001510495,0.0005615528,0.4303761,0.0002847474,0.0003808753,0.3110279,0.003878398,0.0007432441,0.1995084,0.001103049,0.00241303,0.04821231],"study_design_scores_gemma":[0.0001538678,0.000602485,0.2962431,0.00003922312,0.0001723116,0.6871203,0.0004544431,0.0006134195,0.01165186,0.0003003333,0.002598305,0.00005037069],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998794,0.0002236165,0.0002193508,0.00006738355,0.000006884116,0.00001209605,0.00006806117,0.00002507585,0.0005835836],"genre_scores_gemma":[0.9990481,0.0000988461,0.0003706365,0.00006801444,0.00002628565,0.000007414433,0.00009707754,0.000009303464,0.0002743866],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002726093,"threshold_uncertainty_score":0.009119749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0429148991710292,"score_gpt":0.3484471854353185,"score_spread":0.3055322862642893,"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."}}