{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008206248,0.00009044458,0.0001995285,0.0000168924,0.0001139485,0.000004215479,0.0001058412,0.00005289734,0.000005067346],"category_scores_gemma":[0.00004340685,0.00006757834,0.0001548502,0.0000866974,0.001027218,0.000004779368,0.0000807266,0.00007401055,2.186739e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00000817509,"about_ca_system_score_gemma":0.0001205755,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002835903,"about_ca_topic_score_gemma":0.000002469238,"domain_scores_codex":[0.9993549,0.0001095465,0.0002007976,0.0001103382,0.00009978642,0.0001246182],"domain_scores_gemma":[0.9992902,0.00003032634,0.0003667611,0.0001301629,0.00009255305,0.00008996952],"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":[0.0002518246,0.0001076954,0.1168375,0.00002833978,0.0004368153,0.000005892527,0.0004977608,0.0003688072,0.8121253,0.000007035928,0.06839976,0.0009332942],"study_design_scores_gemma":[0.001283312,0.001291679,0.9523419,0.00001439315,0.0002583253,0.001210084,0.0009309659,0.0003905721,0.01561986,0.000117051,0.02637601,0.0001658351],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954434,0.001323684,0.001282472,0.001819262,0.00003895634,0.00006444247,0.00001211711,0.000001705922,0.00001396761],"genre_scores_gemma":[0.9919177,0.002452104,0.001572992,0.003867309,0.0001301565,0.000001210013,0.000004253016,0.000008802723,0.00004544867],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8355044,"threshold_uncertainty_score":0.3784826,"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."}}