{"id":"W2144515265","doi":"10.1681/asn.2007040490","title":"NEK8 Mutations Affect Ciliary and Centrosomal Localization and May Cause Nephronophthisis","year":2008,"lang":"en","type":"article","venue":"Journal of the American Society of Nephrology","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":217,"is_retracted":false,"has_abstract":true,"ca_institutions":"Simon Fraser University","funders":"National Institute of Diabetes and Digestive and Kidney Diseases","keywords":"Nephronophthisis; Biology; Ciliogenesis; Cilium; Genetics; Missense mutation; Centriole; Mutation; Mutant; Ciliopathies; Cell biology; Gene; Mitosis; Phenotype","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":[0.0001014076,0.0004293421,0.0002389973,0.0003451413,0.0001627512,0.0001094506,0.0001542899,0.0003756303,0.001581309],"category_scores_gemma":[0.0003025932,0.0001106992,0.0002631567,0.0001963582,0.0001663367,0.0001341088,0.0002515355,0.0002026491,0.0002344088],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001610076,"about_ca_system_score_gemma":0.00007792615,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000714043,"about_ca_topic_score_gemma":0.001178594,"domain_scores_codex":[0.9998764,0.00001139921,0.00001592931,0.00003309045,0.00003839779,0.00002481061],"domain_scores_gemma":[0.9998595,0.00003340407,0.0000534578,0.00001006276,0.00001254959,0.00003113994],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0004676218,0.0001334475,0.0833953,0.00006631028,0.0001134177,0.01288602,0.0001572506,0.0003018396,0.8932264,0.0002008969,0.0002716399,0.008779837],"study_design_scores_gemma":[0.0000921922,0.0006462614,0.741601,0.00002584659,0.000149404,0.06788278,0.0001617447,0.00138377,0.1822349,0.000201513,0.005595338,0.00002513721],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9987217,0.0001474751,0.0002454523,0.00001951773,0.000003701715,0.000006395374,0.0001359209,0.00001517849,0.000704702],"genre_scores_gemma":[0.9987141,0.0001413326,0.0002893895,0.00002144499,0.000002847324,0.000005403147,0.0001658471,0.000008771788,0.0006509114],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001581309,"threshold_uncertainty_score":0.005290031,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01004438767864196,"score_gpt":0.2487974649223463,"score_spread":0.2387530772437043,"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."}}