{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001388062,0.001207573,0.000496941,0.001155954,0.0005857492,0.000427022,0.0005243559,0.00137199,0.002058872],"category_scores_gemma":[0.0007301929,0.0003629164,0.0004127385,0.0005908365,0.0007713733,0.0002698391,0.0008567007,0.0006802739,0.0003052177],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003264283,"about_ca_system_score_gemma":0.0002988344,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001176143,"about_ca_topic_score_gemma":0.0009980039,"domain_scores_codex":[0.9997453,0.00003386724,0.00002958698,0.00007516865,0.0000766526,0.0000394406],"domain_scores_gemma":[0.9997248,0.000105673,0.00006640272,0.00001307612,0.00001741481,0.00007264943],"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":[0.0004951419,0.00005075099,0.01786993,0.0001224494,0.00009230213,0.7841011,0.0004706181,0.001027535,0.1869531,0.001513245,0.001124441,0.006179548],"study_design_scores_gemma":[0.0001102933,0.0002763494,0.08215845,0.00003416652,0.0001935671,0.8499479,0.0002971974,0.002281145,0.05683574,0.001413797,0.006393576,0.00005781167],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9948197,0.0005696683,0.001148084,0.0004431477,0.00006273901,0.00003096177,0.0004671629,0.00008406984,0.002374555],"genre_scores_gemma":[0.9984937,0.0001887858,0.0004628639,0.00006626904,0.00003454755,0.00001058249,0.0001500837,0.00001516698,0.0005780201],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002058872,"threshold_uncertainty_score":0.006887615,"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."}}