{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004144641,0.0004030406,0.0003381936,0.0009720196,0.0002585026,0.000295679,0.0001752755,0.0003997129,0.001456112],"category_scores_gemma":[0.002069483,0.0001519265,0.0001986682,0.0004934773,0.0003185314,0.0001532119,0.0003806435,0.0002273995,0.0002746528],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001172433,"about_ca_system_score_gemma":0.0001378861,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004280648,"about_ca_topic_score_gemma":0.0003502357,"domain_scores_codex":[0.9995552,0.0001559312,0.00004929184,0.0001354843,0.00006767875,0.00003636495],"domain_scores_gemma":[0.9990226,0.0004954839,0.0002286748,0.00005905806,0.00006579795,0.0001284575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0004192886,0.00004778247,0.9746891,0.00003375538,0.00006471117,0.004377212,0.0001722948,0.0002162784,0.01302248,0.0000374331,0.0001530361,0.006766614],"study_design_scores_gemma":[0.00004941515,0.0006547837,0.9586591,0.00001039568,0.00007485392,0.03566055,0.0001528806,0.0006738311,0.00342804,0.0001048336,0.0005182402,0.00001306136],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9994994,0.00008425437,0.0001758145,0.00001220029,0.000001687993,0.00000631099,0.00009044435,0.000005935799,0.0001238896],"genre_scores_gemma":[0.9995313,0.00004033128,0.0002393969,0.00001321839,0.000004328147,0.000004843473,0.0001341928,0.000003408602,0.00002904496],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001456112,"threshold_uncertainty_score":0.00487119,"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."}}