{"id":"W4415507975","doi":"10.1111/epi.18661","title":"De novo missense variants in <scp> <i>BAIAP2</i> </scp> are associated with developmental and epileptic encephalopathies","year":2025,"lang":"en","type":"article","venue":"Epilepsia","topic":"14-3-3 protein interactions","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Ministry of Education and Child Care","funders":"Jiangsu Provincial Key Research and Development Program; National Natural Science Foundation of China","keywords":"Missense mutation; Epilepsy; Dendritic spine; Loss function; Mutation; Clinical neurology","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":[0.0001841078,0.001268122,0.0003911669,0.0007141652,0.0003679598,0.000336449,0.0003577812,0.0008214442,0.002681065],"category_scores_gemma":[0.000698079,0.000165706,0.0005034956,0.0005025714,0.0005655513,0.0002319052,0.0004236539,0.000506542,0.0004974541],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002769436,"about_ca_system_score_gemma":0.0002182333,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008014385,"about_ca_topic_score_gemma":0.001147635,"domain_scores_codex":[0.9997689,0.00002292566,0.00003993684,0.00008599317,0.0000589769,0.00002321535],"domain_scores_gemma":[0.9994917,0.0001264288,0.0002061068,0.00003240451,0.00005097931,0.00009237185],"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":[0.001016651,0.0001647727,0.09250493,0.0003711332,0.0004730725,0.2969999,0.0006611109,0.00181793,0.5857932,0.00109931,0.001976484,0.01712153],"study_design_scores_gemma":[0.0001489065,0.0004332833,0.2742857,0.0001065606,0.0004161684,0.5673112,0.0003482683,0.004767005,0.1443337,0.000988227,0.006775504,0.00008559167],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9936346,0.0005258984,0.002860963,0.0001865662,0.00004541188,0.00005186447,0.001127908,0.0001244709,0.001442412],"genre_scores_gemma":[0.996769,0.0001527629,0.001856529,0.00008447342,0.00003590836,0.00001855213,0.0005857495,0.00003251688,0.0004645734],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002681065,"threshold_uncertainty_score":0.008969069,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.006240386908486424,"score_gpt":0.2268659181984319,"score_spread":0.2206255312899455,"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."}}