{"id":"W4412840549","doi":"10.5489/cuaj.9241","title":"Case - Genetic mosaicism of TSC2 gene in a patient with multifocal renal epithelioid angiomyolipomas","year":2025,"lang":"en","type":"article","venue":"Canadian Urological Association Journal","topic":"Tuberous Sclerosis Complex Research","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"National Cancer Institute; National Institutes of Health","keywords":"TSC2; Angiomyolipoma; Medicine; Genetic diagnosis; Gene; Tuberous sclerosis; Pathology; Biology; Kidney; Genetics; Internal medicine","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0003696735,0.001798239,0.0007949243,0.002810861,0.002941101,0.001396872,0.001584275,0.003613035,0.004702051],"category_scores_gemma":[0.003628909,0.0009347342,0.001057422,0.001593993,0.002204568,0.001056215,0.001659174,0.00173283,0.0007687565],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001519402,"about_ca_system_score_gemma":0.001303279,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.007502723,"about_ca_topic_score_gemma":0.00651001,"domain_scores_codex":[0.9993278,0.00004748112,0.00008567615,0.0001956163,0.0001189399,0.0002246177],"domain_scores_gemma":[0.9979014,0.0007591046,0.0003811611,0.0001118343,0.0001400454,0.0007064053],"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":[0.00004580791,0.00001744464,0.003626256,0.000009851822,0.000006572581,0.9944232,0.0001062545,0.00005979392,0.001198225,0.0001266179,0.00006741448,0.0003125233],"study_design_scores_gemma":[0.00001048484,0.00003039036,0.004659226,0.000004819862,0.00002071709,0.9938679,0.0001177977,0.0002689438,0.0007080642,0.0001384457,0.0001625896,0.00001053862],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9856985,0.0007314369,0.001438287,0.002091815,0.000114369,0.0001000242,0.0003903803,0.0001753359,0.009259814],"genre_scores_gemma":[0.9983903,0.0001179438,0.0004954364,0.0001453407,0.0001238556,0.000007916916,0.00004195736,0.0000204659,0.0006567107],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.007502723,"threshold_uncertainty_score":0.01572996,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01626890684564335,"score_gpt":0.2442307585804225,"score_spread":0.2279618517347792,"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."}}