{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004920209,0.0001387345,0.0003543465,0.0006204718,0.0001396241,0.00003595187,0.0001152127,0.0002010361,0.0002259054],"category_scores_gemma":[0.0005874081,0.0001065915,0.0001009929,0.0006785493,0.00007196415,0.00004200223,0.00002825144,0.0006786832,0.00001006172],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001321415,"about_ca_system_score_gemma":0.0009794007,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.005473713,"about_ca_topic_score_gemma":0.008291509,"domain_scores_codex":[0.9979775,0.0002697989,0.0005051059,0.000219927,0.0004458198,0.0005818283],"domain_scores_gemma":[0.9985306,0.0001926722,0.0001882678,0.0001595443,0.0003811368,0.0005477465],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0003669081,0.0002604588,0.9531721,0.00001736138,0.0002306734,0.01997987,0.0003949545,0.0009055079,0.004359331,0.0001429901,0.002885639,0.01728418],"study_design_scores_gemma":[0.002715665,0.001022372,0.9789732,0.00007328692,0.00007178316,0.01123382,0.0000992479,0.001678247,0.0006687498,0.0003271591,0.002993908,0.0001426375],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9918232,0.0002858806,0.0002620458,0.006647801,0.00006715077,0.0003065476,0.00003601754,0.00001092108,0.0005604484],"genre_scores_gemma":[0.9959379,0.00002183326,0.002302357,0.001488709,0.00007632352,0.00001572251,0.000007625576,0.00001092607,0.0001386343],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.025801,"threshold_uncertainty_score":0.8274654,"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."}}