{"id":"W2921239690","doi":"10.1016/j.ekir.2019.03.005","title":"Somatic Mosaicism in a Male Patient With X-linked Alport Syndrome","year":2019,"lang":"en","type":"article","venue":"Kidney International Reports","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Guelph","funders":"","keywords":"Alport syndrome; Nephritis; Medicine; Glomerular basement membrane; Basement membrane; Proteinuria; Glomerulonephritis; Disease; Type IV collagen; Renal function; Kidney; Mutation; Gene; Genetics; Pathology; Internal medicine; Biology; Extracellular matrix","routes":{"ca_aff":true,"ca_fund":false,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":false},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00007380737,0.0001080502,0.0001106212,0.00005899054,0.00001308742,0.00001448371,0.0000867456,0.00009418695,0.0002458031],"category_scores_gemma":[0.00005132605,0.00008327819,0.00005235085,0.00006010295,0.00002312098,0.000006244759,0.00004674468,0.00008958713,0.00003343801],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004537205,"about_ca_system_score_gemma":0.0001786237,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005889535,"about_ca_topic_score_gemma":0.000008157236,"domain_scores_codex":[0.9990238,0.0000110502,0.0002812424,0.0002886167,0.0002543355,0.0001409758],"domain_scores_gemma":[0.9994532,0.000003227795,0.000161944,0.0002183266,0.00006440366,0.00009893799],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0004320978,0.0004985886,0.5829738,0.0001209997,0.000902391,0.01310875,0.0003389091,0.005083382,0.3754967,0.0001819267,0.01822158,0.002640855],"study_design_scores_gemma":[0.005257356,0.002813343,0.1384145,0.001754635,0.0001064446,0.09665082,0.0004014526,0.001837165,0.1593579,0.001530106,0.5898389,0.002037357],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9731061,0.00005909563,0.00003428941,0.000483415,0.0005838615,0.0001937171,0.000006776349,0.000007831533,0.02552491],"genre_scores_gemma":[0.9914199,0.00003455676,0.0001886059,0.0005693976,0.00003473807,0.00003080694,0.0002301356,0.00001436991,0.007477475],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5716174,"threshold_uncertainty_score":0.3395986,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002321871680676139,"score_gpt":0.1978338233804573,"score_spread":0.1955119516997812,"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."}}