{"id":"W2252615292","doi":"10.1159/000441843","title":"Primary Adrenocortical Insufficiency Case Series: Genetic Etiologies More Common than Expected","year":2015,"lang":"en","type":"article","venue":"Hormone Research in Paediatrics","topic":"Adrenal Hormones and Disorders","field":"Medicine","cited_by":46,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"Medical Research Council; Janeway Children's Hospital Foundation","keywords":"Etiology; Congenital adrenal hyperplasia; Medicine; Adrenal insufficiency; Primary Adrenal Insufficiency; Genetic testing; Mutation; Pediatrics; Internal medicine; Genetics; Gene; Biology","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0005423446,0.0009630284,0.0008167167,0.001704293,0.001583932,0.001187723,0.0008710768,0.001668552,0.006662904],"category_scores_gemma":[0.004601423,0.0006350499,0.000566191,0.001855767,0.001480561,0.000895855,0.001278185,0.001555292,0.0009511014],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009146233,"about_ca_system_score_gemma":0.001007223,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001653301,"about_ca_topic_score_gemma":0.002191033,"domain_scores_codex":[0.9986919,0.0001669837,0.0001835233,0.0003574139,0.0003077971,0.0002923688],"domain_scores_gemma":[0.9948004,0.001858554,0.001365949,0.0004219267,0.0003071245,0.001245994],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00008707318,0.0001176611,0.3849484,0.0001064846,0.0000549715,0.6089255,0.0004223438,0.0001240587,0.0009595487,0.0002612146,0.0007386847,0.003254116],"study_design_scores_gemma":[0.00001753562,0.00004561048,0.04325504,0.00002022166,0.00001950679,0.9555551,0.0003005627,0.00007394815,0.0001941347,0.0001168216,0.0003937281,0.000007836015],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9914935,0.002888012,0.0006705021,0.0004569993,0.00009278462,0.00006286521,0.0002150157,0.00007022598,0.004050068],"genre_scores_gemma":[0.9982594,0.0007203582,0.0003256514,0.0001514524,0.0001865961,0.00001414517,0.0001187497,0.00001527508,0.0002084732],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.006662904,"threshold_uncertainty_score":0.02228963,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.1119266116463713,"score_gpt":0.3846452136615945,"score_spread":0.2727186020152232,"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."}}