{"id":"W4223648791","doi":"10.1016/j.ajhg.2022.03.002","title":"Germline variants in tumor suppressor FBXW7 lead to impaired ubiquitination and a neurodevelopmental syndrome","year":2022,"lang":"en","type":"article","venue":"The American Journal of Human Genetics","topic":"Genomic variations and chromosomal abnormalities","field":"Biochemistry, Genetics and Molecular Biology","cited_by":41,"is_retracted":false,"has_abstract":false,"ca_institutions":"Trillium Health Centre; Alberta Children's Hospital; University of Calgary; Institute for Clinical Evaluative Sciences; University of Toronto; SickKids Foundation; Hospital for Sick Children","funders":"National Institute of Neurological Disorders and Stroke; National Cancer Institute; National Heart, Lung, and Blood Institute; Health Research Council of New Zealand; CURE Childhood Cancer; National Health and Medical Research Council; Eisai; Murdoch Children's Research Institute; National Institutes of Health; Royal Children's Hospital Foundation; National Eye Institute; UCB; National Human Genome Research Institute; GlaxoSmithKline","keywords":"Biology; Frameshift mutation; Missense mutation; Genetics; Germline; Neurodevelopmental disorder; Germline mutation; Cancer research; Ubiquitin ligase; Ubiquitin; Hypotonia; Mutation","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":[0.0003190257,0.00009283469,0.0001613118,0.00008800717,0.0001678707,0.0000230086,0.0002501347,0.000008397766,0.00002802756],"category_scores_gemma":[0.00001598431,0.0000798497,0.00003889297,0.0001188639,0.00007844804,0.000003412514,0.0002372448,0.0001143491,7.171143e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00003232141,"about_ca_system_score_gemma":0.00007495988,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00001767666,"about_ca_topic_score_gemma":0.00001339839,"domain_scores_codex":[0.9991102,0.0001527847,0.0003090194,0.0001191451,0.0001510856,0.0001577746],"domain_scores_gemma":[0.9994929,0.00001131928,0.0002565167,0.0001372695,0.00004910923,0.00005284191],"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":[0.0003585865,0.0002423897,0.02535811,0.00001445116,0.000110393,0.0001542165,0.003467521,0.004053146,0.9627275,0.00009912988,0.0006320613,0.002782482],"study_design_scores_gemma":[0.001307099,0.007115806,0.9543907,0.00001711126,0.00005147036,0.005079756,0.006306658,0.0001600107,0.02306297,0.0003160263,0.001832181,0.0003602148],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9991888,0.0001486131,0.00006546365,0.0003789324,0.00006547527,0.00009789124,0.00002297898,0.000001788086,0.00002999651],"genre_scores_gemma":[0.9985704,0.00002086177,0.0007000525,0.0005117647,0.000062297,0.00000979338,0.000009371941,0.00001447737,0.0001009594],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.9396645,"threshold_uncertainty_score":0.3256176,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.008965860140373552,"score_gpt":0.2377025971026738,"score_spread":0.2287367369623003,"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."}}