{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001214041,0.002459629,0.0005474114,0.001017195,0.001617457,0.0006308907,0.0007404449,0.001917391,0.003199741],"category_scores_gemma":[0.0008143104,0.0004250499,0.0006875067,0.0008613073,0.00159854,0.0002113456,0.0005530877,0.001013798,0.0004711488],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001744307,"about_ca_system_score_gemma":0.002038486,"about_ca_topic_candidate":true,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.1401302,"about_ca_topic_score_gemma":0.1105125,"domain_scores_codex":[0.9996662,0.00001857432,0.00001921344,0.0001008914,0.00007856487,0.000116606],"domain_scores_gemma":[0.9993827,0.0001186353,0.0001074771,0.00001766965,0.00005861948,0.0003148371],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0004280591,0.0001987115,0.05217469,0.0001133802,0.0001070527,0.861973,0.001854991,0.0002851125,0.07119655,0.0007612235,0.001403839,0.009503383],"study_design_scores_gemma":[0.0001100182,0.0005319992,0.1435528,0.00003188268,0.00009661023,0.8403079,0.0007342104,0.0004577961,0.008392242,0.0001511654,0.005550425,0.00008301837],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9942694,0.0005092534,0.0008894231,0.0004582993,0.00008506049,0.00006249107,0.0004492843,0.00007423361,0.003202459],"genre_scores_gemma":[0.9945678,0.0002821616,0.001114561,0.0003151913,0.00006338687,0.00001594119,0.0002782752,0.00003660349,0.003326041],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8598698,"threshold_uncertainty_score":0.2786291,"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."}}