{"id":"W2048523195","doi":"10.1210/jcem.85.5.6581","title":"A Novel A10E Homozygous Mutation in the<i>HSD3B2</i>Gene Causing Severe Salt-Wasting 3β-Hydroxysteroid Dehydrogenase Deficiency in 46,XX and 46,XY French-Canadians: Evaluation of Gonadal Function after Puberty<sup>1</sup>","year":2000,"lang":"en","type":"article","venue":"The Journal of Clinical Endocrinology & Metabolism","topic":"Hormonal Regulation and Hypertension","field":"Medicine","cited_by":47,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval; Université de Montréal","funders":"","keywords":"Biology; Exon; Endocrinology; Missense mutation; Congenital adrenal hyperplasia; Genetics; Transversion; Internal medicine; Aromatase; Mutation; Gene; Medicine","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00445239,0.0002219465,0.0008186266,0.0003686254,0.0001021811,0.00001841492,0.0001572976,0.0001775934,0.0001572461],"category_scores_gemma":[0.001105913,0.0001404267,0.0001865191,0.0004436231,0.0002811539,0.0002431681,0.00003144278,0.0008395757,0.000004611571],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007362111,"about_ca_system_score_gemma":0.0005035059,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008995449,"about_ca_topic_score_gemma":0.00119769,"domain_scores_codex":[0.9954616,0.001156597,0.001850625,0.0002576623,0.0008624619,0.0004110408],"domain_scores_gemma":[0.9976526,0.0008422685,0.0005838998,0.0003101474,0.0004524836,0.0001585704],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"observational","study_design_scores_codex":[0.009786362,0.003568446,0.04835387,0.0002082164,0.0007614976,0.002624662,0.01532366,0.08238025,0.02907269,0.0005867261,0.0004549841,0.8068786],"study_design_scores_gemma":[0.01440086,0.0007497686,0.9105867,0.000309072,0.001877291,0.01924591,0.001247349,0.04665988,0.0003576289,0.0009886787,0.003302285,0.0002745796],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9859726,0.009319413,0.000171924,0.003607164,0.0001705316,0.0004617531,0.000008902386,0.000007146739,0.0002805701],"genre_scores_gemma":[0.9961584,0.0008613471,0.0003554045,0.002192419,0.0003454273,0.00001195139,0.000009020865,0.00001990482,0.00004613413],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8622328,"threshold_uncertainty_score":0.5726436,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.05000677467129486,"score_gpt":0.3277516196265582,"score_spread":0.2777448449552633,"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."}}