{"id":"W2144450186","doi":"10.1111/j.1399-0004.2010.01612.x","title":"Mutations in a novel cilia-centrosome protein cause a cystic kidney disease associated with retinal degeneration","year":2010,"lang":"en","type":"letter","venue":"Clinical Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia","funders":"","keywords":"Cilium; Bardet–Biedl syndrome; Retinal degeneration; Centrosome; Nephronophthisis; Degeneration (medical); Biology; Cystic kidney disease; Ciliopathies; Polycystic kidney disease; Ciliopathy; Kidney; Kidney disease; Disease; Retinal; Mutation; Genetics; Medicine; Pathology; Endocrinology; Gene; Phenotype; Cell cycle","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":[0.0005060548,0.000895809,0.0009182229,0.0006334486,0.001123186,0.0007450276,0.0009312787,0.009091281,0.002256253],"category_scores_gemma":[0.003467329,0.0003307078,0.0006341804,0.0003959411,0.001173809,0.0007535155,0.0005507888,0.00362993,0.0009128355],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001143444,"about_ca_system_score_gemma":0.0004599833,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003200376,"about_ca_topic_score_gemma":0.003445737,"domain_scores_codex":[0.9994633,0.00009653614,0.00007283095,0.000111782,0.0001214253,0.0001342353],"domain_scores_gemma":[0.9984395,0.0009288916,0.0001014951,0.00007351078,0.0001781339,0.0002784266],"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":[0.000599327,0.0001387431,0.0120273,0.0001000269,0.00006936079,0.9171462,0.000276022,0.0003923103,0.007365351,0.002000268,0.05149699,0.008388224],"study_design_scores_gemma":[0.0006295147,0.0006589926,0.05444545,0.0001413849,0.0002278686,0.8809375,0.0003754696,0.009033284,0.00696343,0.005955839,0.04048262,0.0001486302],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.4846282,0.004986052,0.004008141,0.4462126,0.01885452,0.0002500355,0.0008599099,0.0004228743,0.03977753],"genre_scores_gemma":[0.8970634,0.001682618,0.00211325,0.06630421,0.01806059,0.00006044935,0.0001950462,0.00008364276,0.01443685],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009091281,"threshold_uncertainty_score":0.008296251,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02820741776109229,"score_gpt":0.2990611614917018,"score_spread":0.2708537437306094,"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."}}