{"id":"W1976371489","doi":"10.1177/0883073812443591","title":"Angelman Syndrome Due to a Termination Codon Mutation of the <i>UBE3A</i> Gene","year":2012,"lang":"en","type":"article","venue":"Journal of Child Neurology","topic":"Genetic Syndromes and Imprinting","field":"Biochemistry, Genetics and Molecular Biology","cited_by":7,"is_retracted":false,"has_abstract":true,"ca_institutions":"University Health Network; Mount Sinai Hospital; SickKids Foundation; Hospital for Sick Children; University of Toronto","funders":"","keywords":"UBE3A; Angelman syndrome; Microcephaly; Genetics; Uniparental disomy; Imprinting (psychology); Biology; Phenotype; Intellectual disability; Speech delay; Ubiquitin ligase; Neurodevelopmental disorder; Gene; Mutation; Global developmental delay; Chromosome; Ubiquitin; Karyotype","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":[0.0002607005,0.00007997475,0.0001522921,0.00006095138,0.00004089544,0.000004905928,0.000186914,0.0000866255,0.000009174182],"category_scores_gemma":[0.0001245237,0.00005896654,0.000104451,0.00008336854,0.00003315003,0.000005702464,0.00008781326,0.0001138174,0.000002128712],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003618177,"about_ca_system_score_gemma":0.00002088874,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002198137,"about_ca_topic_score_gemma":0.000002044354,"domain_scores_codex":[0.9992161,0.0001055012,0.0003004874,0.00008829951,0.0001229772,0.0001666673],"domain_scores_gemma":[0.9993426,0.00001374684,0.000319723,0.0001696244,0.00008588178,0.00006838359],"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":[0.0001027277,0.0002403522,0.05416472,0.00003089611,0.00009394829,0.00003964158,0.0002531408,0.0005100628,0.929383,0.00005067587,0.002155322,0.01297546],"study_design_scores_gemma":[0.0003737906,0.0009880576,0.7304015,0.00001081803,0.00003015216,0.01805908,0.00000661744,0.000009624901,0.2358092,0.00002422896,0.01422043,0.00006647239],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9931543,0.0002705899,0.0003232978,0.005370434,0.000568826,0.00009657226,0.000002638239,0.000001240331,0.0002120337],"genre_scores_gemma":[0.9959937,0.00001926948,0.0001518501,0.003551952,0.0002374709,0.000001475938,0.000001872164,0.00001157289,0.00003078563],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.6935738,"threshold_uncertainty_score":0.2404586,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005556435576545026,"score_gpt":0.2190526272275861,"score_spread":0.2134961916510411,"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."}}