{"id":"W2967368498","doi":"10.1111/cge.13618","title":"p21 protein‐activated kinase 1 is associated with severe regressive autism, and epilepsy","year":2019,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Protein Kinase Regulation and GTPase Signaling","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"Izaak Walton Killam Health Centre; Dalhousie University; University of Ottawa; Newborn Screening Ontario; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; IWK Health Centre; McGill University","keywords":"Epilepsy; Autism; Protein kinase A; Medicine; Kinase; Internal medicine; Biology; Genetics; Neuroscience; Psychiatry","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0001388129,0.001753565,0.0003791972,0.001401296,0.0007723432,0.0003457633,0.0003842754,0.001032783,0.001913566],"category_scores_gemma":[0.0008160259,0.0002988116,0.0003177592,0.0006857315,0.0007376781,0.0002438401,0.0005366208,0.0004806245,0.0005415611],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002071601,"about_ca_system_score_gemma":0.0002776432,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001272887,"about_ca_topic_score_gemma":0.001430561,"domain_scores_codex":[0.9997554,0.00002943418,0.00003340754,0.00007893343,0.00006646165,0.00003633056],"domain_scores_gemma":[0.9995771,0.00007993953,0.0001930726,0.00002610423,0.00003079758,0.00009306478],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.0006962101,0.000122247,0.1068532,0.0001679999,0.0001270992,0.7679665,0.0006546788,0.0005006776,0.1080717,0.00105233,0.001327509,0.01245991],"study_design_scores_gemma":[0.00003575757,0.0002259922,0.1729241,0.00003104631,0.0001016101,0.8153983,0.0001841732,0.0006121208,0.007437045,0.0005039227,0.002522122,0.00002385409],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9943628,0.0006012811,0.000889681,0.000300092,0.00002826457,0.00003729841,0.0003106022,0.0001215856,0.003348324],"genre_scores_gemma":[0.9982691,0.0002614304,0.0004283552,0.00004879872,0.00004095496,0.00001002157,0.0001560381,0.0000147384,0.0007705723],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001913566,"threshold_uncertainty_score":0.006401539,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01939854493809131,"score_gpt":0.2882615313763889,"score_spread":0.2688629864382976,"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."}}