{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002920383,0.0002096023,0.0002779235,0.0000286218,0.00007383575,0.00003386337,0.0001361974,0.0003826364,0.0001017341],"category_scores_gemma":[0.0002216432,0.0001770653,0.00009086094,0.0001183531,0.0001684111,0.000004146964,0.0001299526,0.0002122585,0.00002631818],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001200873,"about_ca_system_score_gemma":0.0001235062,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002768093,"about_ca_topic_score_gemma":0.000004769787,"domain_scores_codex":[0.9984511,0.0001671713,0.0003785274,0.0005479254,0.0001852607,0.0002699944],"domain_scores_gemma":[0.9989493,0.00004430951,0.0002423579,0.0004402323,0.0001359148,0.0001878294],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0009001576,0.0004778384,0.1144669,0.00008990937,0.0005408471,0.00006356482,0.0001017798,0.0002137514,0.8595915,0.000263628,0.001970534,0.02131962],"study_design_scores_gemma":[0.008435235,0.004030222,0.1378731,0.0006399137,0.0001657929,0.0000683119,0.0001027257,0.001659365,0.799479,0.000911403,0.04520611,0.001428825],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972238,0.0008750561,0.0002390429,0.0002964252,0.00008129733,0.0006231489,0.00003598673,0.00002524306,0.0006000268],"genre_scores_gemma":[0.9953131,0.0001393438,0.001180568,0.0007076503,0.0001002031,0.00002163738,0.0001222587,0.00003753375,0.002377691],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06011249,"threshold_uncertainty_score":0.7220514,"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."}}