{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009144132,0.0003151811,0.0002309542,0.000171973,0.0001621885,0.0002083663,0.0002380893,0.0002972661,0.001141631],"category_scores_gemma":[0.0002193218,0.0001316548,0.0001560425,0.00009259192,0.0002595905,0.0001500892,0.0002473592,0.0002543957,0.000292552],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002538278,"about_ca_system_score_gemma":0.0001551394,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009469349,"about_ca_topic_score_gemma":0.001114397,"domain_scores_codex":[0.9998336,0.0000227073,0.00001787686,0.00002513865,0.00007512425,0.00002561406],"domain_scores_gemma":[0.9999053,0.00002100237,0.00003013545,0.000008542774,0.000006892952,0.00002799829],"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":[0.00004182384,0.00001057963,0.0003588967,0.000016666,0.000005628224,0.000250617,0.00000692329,0.00005363812,0.9983083,0.00009661799,0.00003004978,0.0008204344],"study_design_scores_gemma":[0.00001284683,0.0001045641,0.01071764,0.000005179424,0.00001871861,0.001851213,0.00002247935,0.001013076,0.9848023,0.00007814266,0.001370316,0.000003702821],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9960485,0.0004934515,0.002224311,0.00006222717,0.000012549,0.00001294427,0.0001710104,0.00004616976,0.0009287113],"genre_scores_gemma":[0.9981441,0.0002089815,0.0009715913,0.00002169942,0.000002554449,0.000006468549,0.0001610622,0.000008795371,0.0004747885],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001141631,"threshold_uncertainty_score":0.003819168,"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."}}