{"id":"W2920957125","doi":"10.1016/j.kint.2019.01.025","title":"SON haploinsufficiency causes impaired pre-mRNA splicing of CAKUT genes and heterogeneous renal phenotypes","year":2019,"lang":"en","type":"article","venue":"Kidney International","topic":"Renal and related cancers","field":"Biochemistry, Genetics and Molecular Biology","cited_by":27,"is_retracted":false,"has_abstract":false,"ca_institutions":"Hospital for Sick Children; University of Toronto; SickKids Foundation; Mount Sinai Hospital","funders":"Canadian Child Health Clinician Scientist Program; Radboud Universiteit; Radboud Universitair Medisch Centrum; National Cancer Institute; National Institutes of Health; Universiteit Stellenbosch; University of South Alabama","keywords":"Haploinsufficiency; Phenotype; RNA splicing; Gene; Genetics; Medicine; Biology; Alternative splicing; Messenger RNA; RNA","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":[0.0001735529,0.0004859116,0.0004443419,0.0008349646,0.0002913015,0.0003699233,0.0003182128,0.0004521921,0.004613271],"category_scores_gemma":[0.00029503,0.0002468522,0.0003343962,0.000376378,0.0006547687,0.0001114291,0.0004772816,0.0004652284,0.0005258803],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002292478,"about_ca_system_score_gemma":0.000304129,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008855606,"about_ca_topic_score_gemma":0.001698063,"domain_scores_codex":[0.9997483,0.00003499025,0.00004122168,0.00005956268,0.00007272996,0.00004322946],"domain_scores_gemma":[0.9995235,0.0001277396,0.0001453266,0.00004406637,0.00002307833,0.0001362582],"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":[0.0004945504,0.00006927985,0.005064158,0.00005573374,0.00005728583,0.00754326,0.0000972149,0.0003117835,0.9811137,0.0008639194,0.00027443,0.004054553],"study_design_scores_gemma":[0.0001557149,0.0003645063,0.08932581,0.00002978407,0.000265315,0.0442748,0.0003472054,0.004358068,0.8495188,0.0008830888,0.01042286,0.00005403263],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9950677,0.0003299288,0.001772959,0.00009410963,0.00005749932,0.00001639693,0.0005135933,0.0001431206,0.002004685],"genre_scores_gemma":[0.9963425,0.0001612911,0.0007893493,0.00004060473,0.00001392509,0.00001028057,0.0002990143,0.00008629928,0.002256812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004613271,"threshold_uncertainty_score":0.01543295,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00506118199187868,"score_gpt":0.2312001185553074,"score_spread":0.2261389365634287,"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."}}