{"id":"W2767307071","doi":"10.1038/s41598-017-15442-1","title":"Novel KIAA0753 mutations extend the phenotype of skeletal ciliopathies","year":2017,"lang":"en","type":"article","venue":"Scientific Reports","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":36,"is_retracted":false,"has_abstract":true,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"Uppsala Multidisciplinary Center for Advanced Computational Science; Japan Society for the Promotion of Science; Sällskapet Barnavård; Science for Life Laboratory; National Key Research and Development Program of China; Stockholms Läns Landsting; RIKEN; Karolinska Institutet; Japan Agency for Medical Research and Development","keywords":"Ciliopathies; Joubert syndrome; Biology; Nonsense mutation; Ciliopathy; Frameshift mutation; Penetrance; Genetics; Phenotype; Zebrafish; Dysplasia; Mutation; Pathology; Cilium; Medicine; Gene; Missense mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001197525,0.0007546681,0.0003867559,0.00117994,0.0003944681,0.0003633875,0.0003217483,0.0009043101,0.00230426],"category_scores_gemma":[0.0006001404,0.0002221307,0.0005049524,0.0004446089,0.0004315161,0.0002308093,0.0006546432,0.0003266204,0.000701166],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002638431,"about_ca_system_score_gemma":0.0002671426,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001730837,"about_ca_topic_score_gemma":0.002807896,"domain_scores_codex":[0.9997869,0.00001597608,0.00004227586,0.00004492785,0.00006627145,0.00004364805],"domain_scores_gemma":[0.999699,0.00009476871,0.00006700653,0.00002400604,0.00003935983,0.00007590866],"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":[0.0003848528,0.00008466447,0.056746,0.000131249,0.00009425693,0.1195424,0.0005026957,0.00073855,0.8027225,0.0009172313,0.0006646554,0.01747091],"study_design_scores_gemma":[0.0001099192,0.0003148534,0.3933107,0.0001404738,0.0003349463,0.4584087,0.000484282,0.002610369,0.1273233,0.002231226,0.01462672,0.0001045419],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9938698,0.001204597,0.00118788,0.0001462077,0.00003432403,0.00001242668,0.0003571069,0.0001215297,0.003066054],"genre_scores_gemma":[0.9979984,0.0003447635,0.0008092039,0.00004995678,0.00001292911,0.000006301752,0.0001988618,0.00001847911,0.0005610171],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00230426,"threshold_uncertainty_score":0.00770849,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01337372440295882,"score_gpt":0.2635360668313467,"score_spread":0.2501623424283879,"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."}}