{"id":"W4414655438","doi":"10.1016/j.ajhg.2025.09.008","title":"A cardiovascular, craniofacial, and neurodevelopmental disorder caused by loss-of-function variants in the eIF3 complex component genes EIF3A and EIF3B","year":2025,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"RNA regulation and disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":2,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Calgary; SickKids Foundation; Ted Rogers Centre for Heart Research; Hospital for Sick Children","funders":"Medical Research Council; Universität Zürich; Azrieli Foundation; Canadian Institutes of Health Research; National Institute for Health and Care Research; Heart of England NHS Foundation Trust; Cancer Research UK; Wellcome Trust","keywords":"Craniofacial; Zebrafish; Gene; Phenotype; Ribosomal RNA; Mutation; Genome; Candidate gene","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":[0.000261348,0.0001070036,0.0002109688,0.00005299816,0.0001130013,0.00002793631,0.0001702772,0.00002177662,0.000003782833],"category_scores_gemma":[0.00001282118,0.00007134271,0.00008221573,0.0001115609,0.0003851447,0.000003346453,0.00006898458,0.00007019406,1.349952e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006541592,"about_ca_system_score_gemma":0.00004675242,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002739335,"about_ca_topic_score_gemma":0.00001203023,"domain_scores_codex":[0.9991179,0.0002107678,0.0002772615,0.000122846,0.0001650023,0.0001061916],"domain_scores_gemma":[0.9994929,0.00001826009,0.0001853249,0.0001998467,0.00006253734,0.00004109707],"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":[0.000576673,0.0003655743,0.3798803,0.00005309418,0.0009011466,0.00001614108,0.0008311786,0.001318327,0.5660128,0.0001684591,0.002323804,0.04755253],"study_design_scores_gemma":[0.001018159,0.0003621802,0.9913843,0.00001144019,0.0001272658,0.00003387291,0.0006688472,0.0001033338,0.0006535164,0.0001297963,0.005411511,0.00009577248],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9937999,0.004569812,0.001132359,0.0002818855,0.00004527071,0.0001165312,0.00000878786,0.00000123153,0.00004427871],"genre_scores_gemma":[0.998068,0.001316643,0.0001001529,0.0004383628,0.00003457239,0.000002261562,0.00001039698,0.000007672922,0.00002193272],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.611504,"threshold_uncertainty_score":0.2909271,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01191506344245285,"score_gpt":0.2546959240147358,"score_spread":0.2427808605722829,"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."}}