{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00005212931,0.00009721801,0.00009618628,0.00004276789,0.00002671578,0.00001377402,0.0001375735,0.00008450132,0.00007481169],"category_scores_gemma":[0.00003049895,0.00008105763,0.00005901294,0.00003161582,0.00005365391,0.000004988966,0.00007240526,0.00004985305,0.000007208941],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001526868,"about_ca_system_score_gemma":0.00008734198,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0001053774,"about_ca_topic_score_gemma":0.00001141822,"domain_scores_codex":[0.9993405,0.00001391979,0.0001681957,0.0002178905,0.0001417437,0.0001177835],"domain_scores_gemma":[0.9996311,0.000005802213,0.00009087325,0.0001187813,0.00007441766,0.00007899749],"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":[0.00009616977,0.00003591565,0.008341703,0.00002156371,0.0001519443,0.000002069281,0.00009227392,0.00184464,0.9873341,0.00005862416,0.0006504329,0.001370595],"study_design_scores_gemma":[0.0007450797,0.0003327714,0.003234104,0.00008057991,0.00002672602,0.0000760855,0.00002517919,0.001949757,0.9703485,0.00006394689,0.02293102,0.0001862598],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996709,0.0007141053,0.0001693438,0.000293612,0.0003824063,0.00008843987,0.00004821271,0.000008115108,0.001586716],"genre_scores_gemma":[0.9974309,0.0005679413,0.0002299427,0.0002234736,0.0001533308,0.000004491062,0.00007755478,0.00001114509,0.001301211],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.02228059,"threshold_uncertainty_score":0.3305434,"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."}}