{"id":"W2909507798","doi":"10.1016/j.ajhg.2018.12.017","title":"Recessive Rare Variants in Deoxyhypusine Synthase, an Enzyme Involved in the Synthesis of Hypusine, Are Associated with a Neurodevelopmental Disorder","year":2019,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Polyamine Metabolism and Applications","field":"Biochemistry, Genetics and Molecular Biology","cited_by":68,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"National Institute of Diabetes and Digestive and Kidney Diseases; National Institutes of Health; Juvenile Diabetes Research Foundation United Kingdom; JPB Foundation","keywords":"DHPS; Biology; Genetics; Eukaryotic initiation factor; Gene; Biochemistry; Translation (biology); Molecular biology; Messenger 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":[0.000419277,0.000140668,0.0003127276,0.00009170568,0.00005048958,0.00001683425,0.0005607724,0.00003254168,0.000007424062],"category_scores_gemma":[0.000107088,0.00008404691,0.00004709896,0.0003879323,0.0002238773,0.000007628603,0.00006019231,0.0001605145,6.305547e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001198569,"about_ca_system_score_gemma":0.0001008385,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00004261938,"about_ca_topic_score_gemma":0.0003742201,"domain_scores_codex":[0.9987363,0.0003090089,0.0004142407,0.0001532358,0.0002047078,0.0001825451],"domain_scores_gemma":[0.9985849,0.00007613582,0.0008274168,0.0003550985,0.0001186084,0.00003789319],"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":[0.0004561903,0.001144483,0.4580434,0.00001879934,0.0001873069,0.00002827102,0.001405947,0.001626123,0.5285355,0.00004139021,0.0001809282,0.008331701],"study_design_scores_gemma":[0.0007399357,0.0006615826,0.9751868,0.00008252516,0.00005783592,0.00003486716,0.00327421,0.00006609384,0.01950251,0.00006139799,0.0001703782,0.0001618165],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9989983,0.0004380908,0.00006311129,0.0002297485,0.00002228462,0.0001719358,0.00002685512,0.000001399443,0.00004831557],"genre_scores_gemma":[0.9991329,0.0001947969,0.0003239505,0.0002389745,0.00004717031,0.00001051598,0.00001547559,0.00001970649,0.0000164562],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5171435,"threshold_uncertainty_score":0.3427333,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01001362402302146,"score_gpt":0.2446619269981662,"score_spread":0.2346483029751447,"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."}}