{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001203422,0.001066889,0.0002396704,0.000287212,0.0001782305,0.0001638203,0.0001616689,0.0003888241,0.001330268],"category_scores_gemma":[0.0006407468,0.0001676149,0.000223827,0.0002193969,0.0004761118,0.0001902816,0.0002437582,0.0003071454,0.0004617753],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002299606,"about_ca_system_score_gemma":0.0002796761,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0009540101,"about_ca_topic_score_gemma":0.001179895,"domain_scores_codex":[0.9999315,0.00001309734,0.000007940154,0.00001741356,0.00001378711,0.00001618812],"domain_scores_gemma":[0.9997069,0.00007417402,0.0001322914,0.000009796187,0.00001028331,0.00006652215],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0008021407,0.0001151582,0.0739864,0.0002148679,0.0001474719,0.7164003,0.0005435963,0.0008716727,0.1833453,0.002568117,0.001578882,0.01942605],"study_design_scores_gemma":[0.0002537732,0.0007644403,0.08694043,0.00005442343,0.0002218936,0.863252,0.0001381084,0.001574258,0.03781181,0.001085968,0.007859668,0.00004326436],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940526,0.0006272062,0.002165292,0.0001833638,0.00006503376,0.00002170372,0.0001662396,0.0001865554,0.00253194],"genre_scores_gemma":[0.9974061,0.0003749316,0.0007674843,0.00007428813,0.00004161809,0.000007090141,0.0001107555,0.00002673032,0.001191059],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001330268,"threshold_uncertainty_score":0.004450142,"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."}}