{"id":"W4416945573","doi":"10.1038/s41390-025-04095-w","title":"Congenital and infantile nephrotic syndrome: genotype-phenotype associations","year":2025,"lang":"en","type":"article","venue":"Pediatric Research","topic":"Renal Diseases and Glomerulopathies","field":"Medicine","cited_by":0,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"","keywords":"Congenital nephrotic syndrome; Nephrotic syndrome; Compound heterozygosity; Gene; Mutation; Genetic diagnosis; Genetic testing; Genetic heterogeneity","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":[0.0005689053,0.000100013,0.000225839,0.0005455333,0.0002668946,0.0000794354,0.00009041859,0.00009677067,0.0001717034],"category_scores_gemma":[0.001128599,0.00008690848,0.00006532771,0.00131093,0.0001141036,0.00007978475,0.0001529664,0.0003763855,0.000186015],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00007564911,"about_ca_system_score_gemma":0.0004648605,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001812141,"about_ca_topic_score_gemma":0.00001265227,"domain_scores_codex":[0.9984722,0.0001092706,0.0002167885,0.0002634954,0.0005352375,0.0004030325],"domain_scores_gemma":[0.9987271,0.000410155,0.00002940272,0.0002456561,0.0003926437,0.000194985],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001360752,0.0002238045,0.969864,0.0005240546,0.0001275361,0.0002079814,0.0001618191,0.000001833619,0.0001937635,0.002892656,0.02175044,0.003915995],"study_design_scores_gemma":[0.0006663086,0.0001716727,0.9945551,0.0000170764,0.0001712657,0.00001832012,0.00009961759,0.0001079103,0.00001426208,0.001448849,0.002647002,0.00008268499],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9752089,0.009943346,0.00002341931,0.001237571,0.0001157182,0.0004813329,0.00003706366,0.00004635733,0.01290626],"genre_scores_gemma":[0.9914947,0.002454869,0.0001442747,0.0001215996,0.0001929455,0.0000419619,0.00003192633,0.00001256027,0.005505171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02469099,"threshold_uncertainty_score":0.3544025,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02798426586327221,"score_gpt":0.3567870664859077,"score_spread":0.3288028006226354,"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."}}