{"id":"W2144996485","doi":"10.2215/cjn.00980208","title":"Evidence for Pathogenicity of Atypical Splice Mutations in Autosomal Dominant Polycystic Kidney Disease","year":2009,"lang":"en","type":"article","venue":"Clinical Journal of the American Society of Nephrology","topic":"Genetic and Kidney Cyst Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Western University; Hospital for Sick Children; University of Toronto","funders":"","keywords":"PKD1; Genetics; splice; Splice site mutation; Autosomal dominant polycystic kidney disease; Exon; Biology; Mutation; Allelic heterogeneity; Medicine; Gene; Alternative splicing; Kidney","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":[0.0008232524,0.0005621985,0.0002863595,0.001156447,0.0003378945,0.000408005,0.0003727954,0.0008077018,0.002613666],"category_scores_gemma":[0.002912713,0.0001859841,0.0004014158,0.0005365111,0.0009355047,0.0002490534,0.0003927538,0.0003956857,0.0004223184],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000155356,"about_ca_system_score_gemma":0.0001977233,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002775103,"about_ca_topic_score_gemma":0.0003568659,"domain_scores_codex":[0.9993398,0.0001272065,0.0001161281,0.0001526205,0.0002133678,0.00005089055],"domain_scores_gemma":[0.9953981,0.002604502,0.0009738276,0.0002178665,0.0004584056,0.0003472657],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.001187809,0.0001087913,0.8838,0.0002639651,0.0001667842,0.03018878,0.0003218464,0.000459007,0.07312225,0.0002705905,0.0003128767,0.009797221],"study_design_scores_gemma":[0.00008904595,0.0006317903,0.7821434,0.0001167768,0.0002881979,0.1866834,0.0005094269,0.002163002,0.02492794,0.0007319695,0.001681245,0.00003368496],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9980726,0.0003894029,0.0006705002,0.00006450625,0.00001129051,0.000007782591,0.0001311043,0.00002422584,0.0006285885],"genre_scores_gemma":[0.9987743,0.0001331532,0.0007913773,0.00005127509,0.00002080323,0.00000499368,0.0001577346,0.000006618808,0.00005961422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002613666,"threshold_uncertainty_score":0.008743584,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04199324897279555,"score_gpt":0.3652827170304265,"score_spread":0.3232894680576309,"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."}}