{"id":"W2077822383","doi":"10.1073/pnas.0805291105","title":"A <i>Drosophila</i> model for Angelman syndrome","year":2008,"lang":"en","type":"article","venue":"Proceedings of the National Academy of Sciences","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":102,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"Eunice Kennedy Shriver National Institute of Child Health and Human Development; National Institute of Neurological Disorders and Stroke; National Institute of Mental Health; Howard Hughes Medical Institute","keywords":"UBE3A; Angelman syndrome; Mushroom bodies; Ubiquitin ligase; Biology; Ubiquitin; Genetics; Loss function; Ataxia; Neurodevelopmental disorder; Missense mutation; Null allele; Drosophila melanogaster; Drosophila (subgenus); Mutation; Mutant; Cell biology; Neuroscience; Gene; Phenotype","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":[0.0002559954,0.001418442,0.0005526272,0.0008062857,0.0009344349,0.0004798051,0.001001199,0.001264778,0.009760804],"category_scores_gemma":[0.0001238736,0.0002847918,0.0007045019,0.0004592131,0.0005488247,0.0005214153,0.0005220243,0.001860972,0.003853877],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009139551,"about_ca_system_score_gemma":0.0004516973,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002493204,"about_ca_topic_score_gemma":0.003300411,"domain_scores_codex":[0.9996818,0.00005511124,0.00004404012,0.00007643306,0.00009669187,0.00004586738],"domain_scores_gemma":[0.9998535,0.00001869932,0.00004166645,0.00001951,0.00001711949,0.00004940229],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0005768928,0.000401386,0.001032757,0.0004159648,0.00006453568,0.001321438,0.0001300495,0.0005005301,0.9614332,0.01016339,0.0144105,0.009549278],"study_design_scores_gemma":[0.0007545138,0.002130197,0.0147707,0.0002781942,0.0002611357,0.007631433,0.0002872077,0.008896686,0.422798,0.003783283,0.5382745,0.0001342005],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7437636,0.01569824,0.06954455,0.0112102,0.003094734,0.003267409,0.064751,0.005512231,0.08315809],"genre_scores_gemma":[0.7053987,0.0110243,0.1091796,0.004776964,0.0002753589,0.003441325,0.04536901,0.001011013,0.1195237],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.009760804,"threshold_uncertainty_score":0.03265309,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04948552510686755,"score_gpt":0.2889614007583866,"score_spread":0.239475875651519,"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."}}