{"id":"W2052486633","doi":"10.1016/j.ajhg.2013.11.010","title":"Mutations in CSPP1, Encoding a Core Centrosomal Protein, Cause a Range of Ciliopathy Phenotypes in Humans","year":2013,"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":89,"is_retracted":false,"has_abstract":false,"ca_institutions":"University of Ottawa; McGill University and Génome Québec Innovation Centre; University of Manitoba; Alberta Children's Hospital; Children's Hospital of Eastern Ontario; University of Calgary","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Diabetes and Digestive and Kidney Diseases; National Eye Institute; Medical Research Council; King Faisal Specialist Hospital and Research Centre; Canadian Institutes of Health Research; U.S. Department of Veterans Affairs","keywords":"Ciliopathy; Phenotype; Genetics; Biology; Mutation; Cilium; Computational biology; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001774772,0.0001322832,0.0002667808,0.0001244508,0.00004829104,0.00001615327,0.0003245097,0.00003136993,0.00003163485],"category_scores_gemma":[0.00007449472,0.0001022041,0.00009917261,0.0001823162,0.0003420523,0.000004674873,0.00006399414,0.0001254821,0.000002633764],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001902806,"about_ca_system_score_gemma":0.0001332227,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00009173789,"about_ca_topic_score_gemma":0.0001004057,"domain_scores_codex":[0.9988395,0.0001262521,0.000495046,0.0001327682,0.0001802341,0.0002262206],"domain_scores_gemma":[0.9990273,0.00001729612,0.000455362,0.0002475212,0.0001591737,0.00009330768],"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":[0.00009800125,0.0001833032,0.0989829,0.00001851134,0.00004665529,0.00001295845,0.001096274,0.0005217631,0.897755,0.00002272114,0.0001366347,0.001125312],"study_design_scores_gemma":[0.002585127,0.003505755,0.8554496,0.0002029757,0.0001230114,0.00005321466,0.006487462,0.00009590323,0.1288078,0.002082394,0.0001962609,0.0004105388],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9982593,0.001144437,0.00008465003,0.0001090431,0.00002817742,0.0002655657,0.00001016761,0.000001674041,0.00009699563],"genre_scores_gemma":[0.999079,0.0001274404,0.000489982,0.0001138648,0.0001074789,0.0000160927,0.000005102785,0.0000176069,0.00004344872],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.7689471,"threshold_uncertainty_score":0.4167762,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01539412124142706,"score_gpt":0.2657220138247311,"score_spread":0.250327892583304,"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."}}