{"id":"W4405808375","doi":"10.1053/j.ajkd.2024.10.009","title":"Clinical Spectrum and Prognosis of Atypical Autosomal Dominant Polycystic Kidney Disease Caused by Monoallelic Pathogenic Variants of IFT140","year":2024,"lang":"en","type":"article","venue":"American Journal of Kidney Diseases","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Cliniques Universitaires Saint-Luc; Medical Research Council; European Rare Kidney Disease Reference Network; Sheffield Teaching Hospitals NHS Foundation Trust; Centre hospitalier universitaire Sainte-Justine; Kidney Research UK; Schweizerischer Nationalfonds zur Förderung der Wissenschaftlichen Forschung; Wellcome Trust; Agence Nationale de la Recherche; National Institute for Health and Care Research; Heart of England NHS Foundation Trust; Cancer Research UK; Deutsche Forschungsgemeinschaft; Centre hospitalier régional universitaire de Lille; Université Catholique de Louvain; Queen Mary University of London; Universität Zürich","keywords":"Medicine; Polycystic kidney disease; Disease; Autosomal dominant polycystic kidney disease; Kidney disease; Polycystic kidney; Internal medicine; Pathology","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"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":[0.0002641464,0.0006774999,0.0004805975,0.0008924889,0.0004770813,0.0003994413,0.000329206,0.0005691382,0.001665545],"category_scores_gemma":[0.001670692,0.0001915014,0.0003035065,0.000565242,0.0005348195,0.0003235225,0.0005021067,0.0003552714,0.0002574101],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002308065,"about_ca_system_score_gemma":0.0002834336,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001160223,"about_ca_topic_score_gemma":0.0008525228,"domain_scores_codex":[0.9997281,0.00004407313,0.00003481554,0.00006343492,0.00004970382,0.00007983885],"domain_scores_gemma":[0.9990439,0.0002225651,0.0002520757,0.00003946818,0.0001076685,0.0003342985],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.00181112,0.00008933101,0.8171921,0.00004828036,0.00006867089,0.1512218,0.0003669002,0.0003852058,0.02069252,0.0003327925,0.0004862358,0.007305135],"study_design_scores_gemma":[0.00002917354,0.0002350956,0.76493,0.00001938185,0.00006910156,0.2322949,0.0002951884,0.000563869,0.0008013686,0.0003954528,0.0003356911,0.00003087673],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974912,0.0002805385,0.0002295813,0.00006932917,0.000006587504,0.00000800078,0.0001638164,0.00001407375,0.001736971],"genre_scores_gemma":[0.9995333,0.00007497975,0.0001124118,0.0000212245,0.00001180425,0.000003181918,0.0001206372,0.000005029485,0.0001175091],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001665545,"threshold_uncertainty_score":0.005571783,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006354711871552994,"score_gpt":0.2644910396315955,"score_spread":0.2581363277600425,"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."}}