{"id":"W4391781897","doi":"10.1159/000536437","title":"Severe Aldosterone Synthase Deficiency in a 9-Day-Old Lebanese Boy: The Importance of Functional Studies to Establish Pathogenicity of Seemingly Benign Variants in &lt;i&gt;CYP11B2&lt;/i&gt;","year":2024,"lang":"en","type":"article","venue":"Hormone Research in Paediatrics","topic":"Hormonal Regulation and Hypertension","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université de Montréal; Centre Hospitalier Universitaire Sainte-Justine","funders":"","keywords":"Aldosterone; Aldosterone synthase; Pathogenicity; Endocrinology; Medicine; Internal medicine; Biology; Physiology; Microbiology; Renin–angiotensin system; Blood pressure","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":[0.000182455,0.0007153024,0.0006281387,0.0007987462,0.0008088987,0.0006336956,0.0003645306,0.001533617,0.001422629],"category_scores_gemma":[0.0007826829,0.0003012096,0.0004454368,0.0003128776,0.000767405,0.0004769357,0.0004304301,0.001524475,0.0003446061],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005962123,"about_ca_system_score_gemma":0.000570291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004491049,"about_ca_topic_score_gemma":0.003718572,"domain_scores_codex":[0.999786,0.00002775031,0.00002308677,0.00006171708,0.00004550967,0.00005595073],"domain_scores_gemma":[0.9995269,0.0001581507,0.00006753893,0.00001258428,0.00003954153,0.0001952746],"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":[0.00005332868,0.00002267861,0.01608654,0.00003588841,0.000007233314,0.9732511,0.0003204323,0.00006704518,0.008705706,0.0001178811,0.0001844375,0.00114763],"study_design_scores_gemma":[0.00001170011,0.0002033026,0.03814723,0.00003358878,0.00002439214,0.9533322,0.0005384544,0.0003159627,0.005320054,0.0001274475,0.001926849,0.00001878465],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9906363,0.002680645,0.001083495,0.002501293,0.0001489436,0.00003499043,0.0003385709,0.00005914839,0.00251667],"genre_scores_gemma":[0.997178,0.0008024872,0.0007012764,0.0004105979,0.00009118856,0.000006155224,0.00008587581,0.00002049969,0.0007039966],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004491049,"threshold_uncertainty_score":0.008929849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.08030946076282068,"score_gpt":0.3451250627218133,"score_spread":0.2648156019589926,"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."}}