{"id":"W2475926027","doi":"10.1038/cdd.2016.76","title":"ASPP2 deficiency causes features of 1q41q42 microdeletion syndrome","year":2016,"lang":"en","type":"article","venue":"Cell Death and Differentiation","topic":"Cancer-related Molecular Pathways","field":"Medicine","cited_by":9,"is_retracted":false,"has_abstract":false,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Child Health and Human Development; National Institute on Drug Abuse; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; National Institutes of Health; BHF Centre of Research Excellence, Oxford; Wellcome Trust; British Heart Foundation; Francis Crick Institute; Home Office; Ludwig Institute for Cancer Research; McGill University","keywords":"Microphthalmia; Coloboma; CHARGE syndrome; Microdeletion syndrome; Candidate gene; Biology; Craniofacial; Pathology; Craniofacial abnormality; Genetics; Phenotype; Medicine; Bioinformatics; 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":[0.00004509796,0.0001037374,0.0001650237,0.0001068068,0.00003779867,0.000008444126,0.00002994526,0.00009665408,0.00006099443],"category_scores_gemma":[0.0000337908,0.00007054296,0.00005612541,0.00007289163,0.00003124703,0.00004928877,0.00001897331,0.00005565434,0.00001152573],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00004219477,"about_ca_system_score_gemma":0.00003601046,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002554932,"about_ca_topic_score_gemma":0.000006699894,"domain_scores_codex":[0.9993245,0.00002076718,0.0001650836,0.0001942308,0.0001552469,0.0001401766],"domain_scores_gemma":[0.9995765,0.00002430727,0.00009141969,0.0001623868,0.0000703262,0.00007504412],"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":[0.00007716628,0.0001256183,0.01567077,0.0001620755,0.00001690149,0.000009495237,0.00009217722,8.476582e-7,0.9772276,0.0005529523,0.0002146979,0.005849738],"study_design_scores_gemma":[0.001666192,0.0002949456,0.6493989,0.0001785273,0.0001601131,0.00009205631,0.0000151705,0.00002162566,0.3475522,0.0003589019,0.000149734,0.0001116102],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9902347,0.001939192,0.006226294,0.0001135562,0.0001341953,0.0001939831,0.00001476254,0.00003310022,0.001110207],"genre_scores_gemma":[0.9986065,0.0004887898,0.0001658059,0.00003807559,0.00002264721,0.000007045755,0.00003876251,0.00001306393,0.0006192854],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6337281,"threshold_uncertainty_score":0.2876658,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00967419783067122,"score_gpt":0.2172981988793478,"score_spread":0.2076240010486765,"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."}}