{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002077149,0.001004381,0.0005260151,0.001386972,0.00116269,0.0006578392,0.0004043082,0.00148854,0.003584486],"category_scores_gemma":[0.000768323,0.0004155478,0.0004360882,0.0007914132,0.0008019766,0.0003280728,0.0005938612,0.0005986443,0.0003687745],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0004179793,"about_ca_system_score_gemma":0.0003735359,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002304361,"about_ca_topic_score_gemma":0.002216343,"domain_scores_codex":[0.9996489,0.00003518795,0.00002413684,0.0001298323,0.0000896729,0.00007223983],"domain_scores_gemma":[0.9996543,0.00009368205,0.00007541023,0.00001388779,0.00002324404,0.0001395014],"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":[0.0001489072,0.00007695767,0.01669378,0.00003137247,0.00004343355,0.9531732,0.0005492172,0.0001870513,0.02477242,0.0006519044,0.0004881607,0.003183499],"study_design_scores_gemma":[0.00002949021,0.0001991354,0.03179247,0.00001471778,0.00005792032,0.9625043,0.0001612217,0.0005348405,0.003117813,0.0002536003,0.001310529,0.0000239356],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992146,0.0006298973,0.001190732,0.0006578689,0.00007699813,0.00004453553,0.0003388917,0.0001389023,0.004776229],"genre_scores_gemma":[0.9976974,0.0002126956,0.0004512428,0.0001550791,0.00006083413,0.000006739695,0.0000635933,0.00001888092,0.001333485],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003584486,"threshold_uncertainty_score":0.01199126,"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."}}