{"id":"W2811093947","doi":"10.1017/cjn.2018.233","title":"P.131 De novo PIK3CB mutation associated with macrocephaly and diffuse polymicrogyria","year":2018,"lang":"en","type":"article","venue":"Canadian Journal of Neurological Sciences / Journal Canadien des Sciences Neurologiques","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Macrocephaly; Polymicrogyria; Megalencephaly; Exome sequencing; Medicine; Ventriculomegaly; Global developmental delay; Mutation; Pathology; Epilepsy; Biology; Genetics; Gene; Phenotype","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":true,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001427295,0.002521325,0.0007018081,0.001244979,0.000920528,0.0004793162,0.0007914365,0.002574233,0.005167108],"category_scores_gemma":[0.0009674408,0.000465625,0.0006375174,0.0008840532,0.0008240168,0.0006460109,0.0007246779,0.00140222,0.001308132],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0009298295,"about_ca_system_score_gemma":0.0005322397,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00408939,"about_ca_topic_score_gemma":0.002568909,"domain_scores_codex":[0.9996976,0.00001833109,0.00002907269,0.0001186565,0.00006342323,0.00007297527],"domain_scores_gemma":[0.9996141,0.00008776684,0.00007640412,0.00001655349,0.00004607831,0.0001589753],"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":[0.00006889371,0.0000302235,0.004326592,0.00004584984,0.0000141699,0.9879653,0.00009840411,0.0001159672,0.005013274,0.0002036664,0.0009402847,0.001177353],"study_design_scores_gemma":[0.00004525727,0.0001561045,0.02333429,0.00004299888,0.00003284085,0.9714746,0.0000757078,0.0006649651,0.001860084,0.0003170815,0.001968988,0.00002697487],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9729928,0.001955707,0.002110329,0.004175025,0.00042227,0.0003200944,0.002545075,0.0003350909,0.01514362],"genre_scores_gemma":[0.9933653,0.0005106688,0.0009587302,0.0005598232,0.0002686925,0.00004601549,0.000777335,0.00005200919,0.003461342],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005167108,"threshold_uncertainty_score":0.01728565,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01223726915229942,"score_gpt":0.2373097540202238,"score_spread":0.2250724848679244,"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."}}