{"id":"W2134933764","doi":"10.1093/hmg/ddt100","title":"Pathogenic NPHP5 mutations impair protein interaction with Cep290, a prerequisite for ciliogenesis","year":2013,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":71,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université de Montréal; Montreal Clinical Research Institute","funders":"Canadian Institutes of Health Research","keywords":"Ciliogenesis; Cilium; Biology; Phenotype; Mutation; Centrosome; Cell biology; Genetics; Mechanism (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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.00006824578,0.000299059,0.000182463,0.00008971806,0.0001896346,0.00009388142,0.0002415439,0.0001509672,0.0001078074],"category_scores_gemma":[0.00004108823,0.0002829849,0.0001935284,0.0001222868,0.0001049638,0.000007047724,0.00008868515,0.00006431964,0.00004005222],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00002118889,"about_ca_system_score_gemma":0.0001315856,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000214899,"about_ca_topic_score_gemma":0.00002312577,"domain_scores_codex":[0.9984627,0.00007637801,0.000295649,0.0005558765,0.0002014214,0.0004080073],"domain_scores_gemma":[0.9986864,0.000007349046,0.0001331333,0.000600411,0.0003276233,0.0002450983],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.00005274242,0.0001230939,0.0007365915,0.00005070011,0.000129116,0.00000444815,0.0000468082,0.0004701267,0.9966155,0.00003286718,0.001019262,0.0007187144],"study_design_scores_gemma":[0.001868168,0.001974997,0.02749874,0.00005282421,0.0002420154,0.00004189733,0.0002586273,0.0004137913,0.9580069,0.001126069,0.007744825,0.0007710994],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9724103,0.0009625944,0.02427983,0.00009589268,0.00004630176,0.001753994,0.00007283752,0.00003599756,0.0003422224],"genre_scores_gemma":[0.9874516,0.00002032237,0.009432078,0.0003775018,0.000138845,0.00118304,0.0006443741,0.00008524003,0.0006670524],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.03860858,"threshold_uncertainty_score":0.9999622,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008634289390449119,"score_gpt":0.2491699117301751,"score_spread":0.2405356223397259,"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."}}