{"id":"W2791760233","doi":"10.1093/hmg/ddx435","title":"A recurrent de novo missense mutation in UBTF causes developmental neuroregression","year":2017,"lang":"en","type":"article","venue":"Human Molecular Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":50,"is_retracted":false,"has_abstract":true,"ca_institutions":"Université Laval","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of General Medical Sciences; National Human Genome Research Institute; National Institutes of Health; NIH Office of the Director; U.S. Department of Defense; Health Science Center, University of Tennessee; Korea Electrotechnology Research Institute","keywords":"Biology; Missense mutation; Genetics; Mutation; Gene","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0001395486,0.0002568128,0.0001811241,0.00008765033,0.0003169876,0.0001159251,0.0004035392,0.0001435157,0.00001762839],"category_scores_gemma":[0.0001058717,0.000277807,0.00008793298,0.00004516248,0.0001200753,0.000004166158,0.0003012087,0.0001262929,0.00001236489],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003658929,"about_ca_system_score_gemma":0.0001405089,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001876359,"about_ca_topic_score_gemma":0.0003335765,"domain_scores_codex":[0.9985046,0.00008126004,0.0003158468,0.0004947635,0.0002125633,0.0003909624],"domain_scores_gemma":[0.9991623,0.000004206942,0.000161907,0.0004872133,0.00005725294,0.0001271717],"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":[0.00005373812,0.0001044069,0.01065804,0.00001738566,0.00002088783,0.0002588944,0.00013065,0.000156596,0.9853218,0.00003205698,0.0001841615,0.003061343],"study_design_scores_gemma":[0.001590924,0.0002448849,0.5418001,0.0000549127,0.00001867285,0.0001562952,0.00009257415,0.00008493708,0.4521808,0.0003371797,0.002986985,0.0004516973],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.99731,0.0007127232,0.0002712778,0.00009543643,0.0001411032,0.0002954359,0.000006970178,0.00001047793,0.001156542],"genre_scores_gemma":[0.9962211,0.0003793606,0.002728826,0.0002952375,0.00002433323,0.00003530531,0.00009367001,0.00005170915,0.0001704875],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5331411,"threshold_uncertainty_score":0.9999674,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02276780512587998,"score_gpt":0.2960947424331448,"score_spread":0.2733269373072648,"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."}}