{"id":"W2150928079","doi":"10.1016/j.ajhg.2008.10.002","title":"CC2D2A Is Mutated in Joubert Syndrome and Interacts with the Ciliopathy-Associated Basal Body Protein CEP290","year":2008,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":230,"is_retracted":false,"has_abstract":false,"ca_institutions":"Centre for Addiction and Mental Health","funders":"National Institute of Environmental Health Sciences; National Institute on Deafness and Other Communication Disorders; Nederlandse Organisatie voor Wetenschappelijk Onderzoek; National Center for Research Resources; National Institute of Neurological Disorders and Stroke; Eunice Kennedy Shriver National Institute of Child Health and Human Development; Howard Hughes Medical Institute","keywords":"Ciliopathy; Joubert syndrome; Basal body; Ciliopathies; Cell biology; Basal (medicine); Cilium; Biology; Genetics; Endocrinology; Gene; Flagellum; 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":[0.0002504046,0.000188812,0.0002821003,0.00006621439,0.0001738439,0.00002773463,0.0003700244,0.00003634804,0.00001353519],"category_scores_gemma":[0.00004810618,0.0001073695,0.0000789182,0.0001916247,0.0006847305,0.000004314484,0.00009365677,0.0002151595,0.000001932942],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001884733,"about_ca_system_score_gemma":0.0001727974,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003505776,"about_ca_topic_score_gemma":0.00002918408,"domain_scores_codex":[0.9987464,0.0002293996,0.0003301513,0.0001748681,0.0002540088,0.0002651762],"domain_scores_gemma":[0.9989384,0.00002174473,0.0004573746,0.0002852057,0.0001568975,0.0001403452],"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":[0.0009974728,0.0004942403,0.03688583,0.00001865577,0.0005509053,0.0005593672,0.003051795,0.0002309715,0.9511024,0.000002994141,0.005019767,0.001085554],"study_design_scores_gemma":[0.003051498,0.01162289,0.8036543,0.0001755763,0.0002096209,0.002958547,0.002942162,0.00008894804,0.1732333,0.0002049501,0.001273865,0.000584288],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978961,0.0009399083,0.00003376128,0.0008362004,0.0000232608,0.0001897511,0.00001052323,0.000003099622,0.0000673356],"genre_scores_gemma":[0.9984324,0.0002491452,0.0001057382,0.0008908796,0.00006508219,0.000006763299,0.000006084213,0.00002771762,0.0002161787],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7778691,"threshold_uncertainty_score":0.43784,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006659430809877647,"score_gpt":0.2276751652344879,"score_spread":0.2210157344246103,"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."}}