{"id":"W2158549435","doi":"10.1210/jc.2011-0640","title":"Genotype-Phenotype Analysis in Congenital Adrenal Hyperplasia due to P450 Oxidoreductase Deficiency","year":2011,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Sexual Differentiation and Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":166,"is_retracted":false,"has_abstract":true,"ca_institutions":"Kingston General Hospital","funders":"Wellcome Trust","keywords":"Missense mutation; Multiplex ligation-dependent probe amplification; Compound heterozygosity; 21-Hydroxylase; Congenital adrenal hyperplasia; Endocrinology; Genotype; Internal medicine; Biology; Adrenal insufficiency; Phenotype; Genetics; Medicine; Gene","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":[],"consensus_categories":[],"category_scores_codex":[0.0007839923,0.0001758898,0.0005997941,0.0002615828,0.00005612112,0.000009493061,0.0005645131,0.0001481075,0.0002561183],"category_scores_gemma":[0.0009008901,0.0001196819,0.0003481334,0.0004087285,0.0002205173,0.000009352295,0.0001296943,0.0003704,0.0000429928],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000005333337,"about_ca_system_score_gemma":0.0001406344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000809391,"about_ca_topic_score_gemma":0.0002358706,"domain_scores_codex":[0.9975857,0.0005447868,0.001078677,0.0002339558,0.0001939627,0.0003629258],"domain_scores_gemma":[0.9987283,0.0001066937,0.0003926007,0.0003706118,0.0002112699,0.0001905208],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.02775528,0.009334122,0.4772665,0.00004201269,0.01385918,0.0007804802,0.007495678,0.002486299,0.3016886,0.01647162,0.009726087,0.1330942],"study_design_scores_gemma":[0.002029304,0.000572398,0.9819054,0.000002435229,0.001115027,0.0001983188,0.0005544315,0.00002209467,0.007333028,0.0006220264,0.005433423,0.000212112],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939491,0.002583385,0.001526079,0.0002956284,0.0005754534,0.0001086622,0.000009267829,0.000004966389,0.0009474879],"genre_scores_gemma":[0.9970466,0.0003582724,0.0008663905,0.001282204,0.0003186744,0.000002975922,0.00001453,0.00001369331,0.00009668899],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5046389,"threshold_uncertainty_score":0.4880487,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04548737980230061,"score_gpt":0.3369442958808757,"score_spread":0.291456916078575,"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."}}