{"id":"W2750721430","doi":"10.1093/brain/awx203","title":"Mutations of AKT3 are associated with a wide spectrum of developmental disorders including extreme megalencephaly","year":2017,"lang":"en","type":"article","venue":"Brain","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":113,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia; BC Children's Hospital; McMaster University; 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 General Medical Sciences; National Heart, Lung, and Blood Institute; School of Medicine, Stanford University; Cancer Research UK; National Institutes of Health; European Commission","keywords":"Polymicrogyria; Megalencephaly; Biology; Genetics; Cortical dysplasia; Haploinsufficiency; Sanger sequencing; AKT3; Missense mutation; Phenotype; Mutation; Cancer research; AKT1; Gene; PI3K/AKT/mTOR pathway; Epilepsy; Neuroscience","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":[0.00007022445,0.00007341057,0.0001023231,0.00002487907,0.0001255772,0.00001120845,0.0001621936,0.00004128604,0.0000117768],"category_scores_gemma":[0.0003333602,0.00006589929,0.00004620075,0.00002628032,0.0001235531,0.000003731414,0.00008169789,0.00002276395,5.780174e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001011569,"about_ca_system_score_gemma":0.00009916088,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00005570814,"about_ca_topic_score_gemma":0.001029683,"domain_scores_codex":[0.9995482,0.00001573929,0.0001206811,0.0001367491,0.00007212342,0.0001064864],"domain_scores_gemma":[0.9995192,0.00001658577,0.0002330829,0.0001613573,0.00003580677,0.0000339576],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001260938,0.0002962628,0.6228034,0.00004380518,0.0003529128,0.00001197123,0.0003423622,0.0001248779,0.37271,0.0002037939,0.001754299,0.001230172],"study_design_scores_gemma":[0.0009679113,0.0001502813,0.9076016,0.00009426321,0.00003215454,0.000004208709,0.0006793736,0.0000339228,0.08842004,0.0004181522,0.001395653,0.0002024549],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9976718,0.000125491,0.0001582944,0.000382468,0.00002657421,0.00008438424,0.00007854692,0.000002908988,0.001469506],"genre_scores_gemma":[0.9992757,0.00002474275,0.0002504165,0.00004309191,0.00001636679,0.000005466695,0.00007974319,0.000009901914,0.0002945747],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2847981,"threshold_uncertainty_score":0.2687295,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02093247477923162,"score_gpt":0.2471265548345594,"score_spread":0.2261940800553278,"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."}}