{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001163462,0.001247955,0.0004426565,0.0006142149,0.0004624347,0.0002822485,0.0004518696,0.0007181235,0.001726708],"category_scores_gemma":[0.000404748,0.0002244551,0.0004733552,0.0004889992,0.0005694328,0.0001921553,0.0005137025,0.0004881328,0.0004510354],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005344381,"about_ca_system_score_gemma":0.0003316285,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002045287,"about_ca_topic_score_gemma":0.00288197,"domain_scores_codex":[0.999785,0.00001103312,0.00002185371,0.00008574658,0.00004066455,0.00005573573],"domain_scores_gemma":[0.9997088,0.00005945551,0.00008832702,0.00002237324,0.0000221329,0.00009878544],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0003578257,0.000163381,0.07138582,0.00009200886,0.0001959588,0.7247029,0.0005891862,0.000480634,0.1780114,0.0005137352,0.001226611,0.02228043],"study_design_scores_gemma":[0.00005369976,0.0004269049,0.123461,0.00002060246,0.0001460599,0.8357273,0.0001853707,0.0009302645,0.03591862,0.0001742847,0.002923433,0.00003240631],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968095,0.0003715164,0.001204384,0.00009952723,0.00002361658,0.00001941184,0.0002915615,0.000108942,0.001071473],"genre_scores_gemma":[0.9981391,0.0001278212,0.0005300242,0.00005124771,0.00002414301,0.000005355163,0.0002098056,0.00002129461,0.0008910975],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002045287,"threshold_uncertainty_score":0.005776465,"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."}}