{"id":"W4318542968","doi":"10.1016/j.braindev.2023.01.003","title":"A novel splice site CUL3 variant in a patient with neurodevelopmental delay","year":2023,"lang":"en","type":"article","venue":"Brain and Development","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":false,"ca_institutions":"Newborn Screening Ontario; Agricultural Research Institute of Ontario","funders":"","keywords":"splice; Neurodevelopmental disorder; Splice site mutation; Intellectual disability; Genetics; Phenotype; Autism spectrum disorder; Medicine; Biology; RNA splicing; Gene; Autism; Psychiatry; RNA","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00008050112,0.0001365036,0.00009463842,0.00007468616,0.00007467072,0.00001902211,0.0000612345,0.00004804357,0.000005129355],"category_scores_gemma":[0.00001675793,0.0001134409,0.00001514004,0.0001358291,0.00002467666,0.000002618492,0.0001577977,0.00004028195,0.00001591367],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001214143,"about_ca_system_score_gemma":0.0002011544,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001903865,"about_ca_topic_score_gemma":0.0001121964,"domain_scores_codex":[0.9991512,0.00001277792,0.0001633898,0.0003327459,0.0001029537,0.0002368877],"domain_scores_gemma":[0.9997326,0.00000942724,0.00003348668,0.0001100427,0.00001723582,0.00009721691],"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":[0.001129793,0.001057517,0.03702129,0.0002126156,0.0003428788,0.004399823,0.01232335,0.0009617956,0.8348418,0.0002655208,0.01547031,0.09197325],"study_design_scores_gemma":[0.004369658,0.0005039904,0.611349,0.0001163397,0.00001252695,0.001907956,0.001643172,0.0003209378,0.02294483,0.00002091263,0.3555287,0.00128197],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.998639,0.0001234752,0.0003853191,0.0001971768,0.00004674733,0.0001815465,0.00001509394,0.00001536927,0.0003962428],"genre_scores_gemma":[0.9935688,0.00007133452,0.004659803,0.001132039,0.00001801113,0.0000556797,0.0002384997,0.00001898567,0.0002368894],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.811897,"threshold_uncertainty_score":0.4625987,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007475655264600696,"score_gpt":0.2043988130717556,"score_spread":0.1969231578071549,"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."}}