{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001098561,0.0006208607,0.0002944666,0.001102625,0.0002706685,0.0002249142,0.0001536633,0.0002080983,0.001626616],"category_scores_gemma":[0.0003568628,0.0001360353,0.0003137127,0.0008788267,0.0003831714,0.0001264771,0.0003341212,0.0002245521,0.0003714766],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001454571,"about_ca_system_score_gemma":0.0002132435,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000606054,"about_ca_topic_score_gemma":0.0008164024,"domain_scores_codex":[0.9998651,0.0000137412,0.0000260346,0.00003846398,0.00004034014,0.00001644164],"domain_scores_gemma":[0.9997868,0.00005581376,0.00008765911,0.00001629924,0.00002115052,0.00003236102],"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":[0.001011153,0.00007300014,0.3798304,0.0004301457,0.0004121946,0.06709054,0.0008405531,0.0007810116,0.4709372,0.0006580435,0.0008059742,0.07712984],"study_design_scores_gemma":[0.00003024298,0.0001763833,0.7471347,0.00005366382,0.0002375605,0.1916038,0.0002354428,0.0003487231,0.05309802,0.0005165706,0.006534624,0.00003028171],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9949691,0.001444747,0.001174099,0.00005078291,0.000005533319,0.00001315391,0.0007346659,0.00006195508,0.001545899],"genre_scores_gemma":[0.9967095,0.001068164,0.000905198,0.00002999015,0.000007911353,0.000006735867,0.0006766869,0.00001846331,0.0005773334],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001626616,"threshold_uncertainty_score":0.005441546,"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."}}