{"id":"W4403386250","doi":"10.1111/cge.14632","title":"<scp>ME2</scp> Deficiency Is Associated With Recessive Neurodevelopmental Disorder","year":2024,"lang":"en","type":"article","venue":"Clinical Genetics","topic":"Genetics and Neurodevelopmental Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Lunenfeld-Tanenbaum Research Institute; University of Toronto; Mount Sinai Hospital","funders":"","keywords":"Malate dehydrogenase; Biology; Frameshift mutation; Malic enzyme; Exome sequencing; Genetics; Gene; Neurodevelopmental disorder; Gene isoform; Allele; Enzyme; Mutation; Biochemistry; Dehydrogenase","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":"codex-gemma-dda1882f352a","candidate_categories":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002761808,0.0003398144,0.0002628273,0.00006200685,0.0001426784,0.000116147,0.0003833945,0.0002940943,0.00004257915],"category_scores_gemma":[0.0003660709,0.0002945135,0.0001680589,0.0003534677,0.0002821648,0.000004851799,0.0002856029,0.000298894,0.00009962971],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001594696,"about_ca_system_score_gemma":0.0003210503,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000002011709,"about_ca_topic_score_gemma":0.00003096084,"domain_scores_codex":[0.9975197,0.0001119601,0.000581217,0.0009519547,0.0003244725,0.000510734],"domain_scores_gemma":[0.9990354,0.0001372985,0.0001091622,0.0003889165,0.0001138021,0.0002154237],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0001415008,0.002901758,0.4633822,0.0002928877,0.00145884,0.0003604218,0.001597105,0.0007396162,0.1094853,0.0002090892,0.2453091,0.1741221],"study_design_scores_gemma":[0.001771666,0.002465306,0.5235659,0.0001441716,0.0001724717,0.00005621055,0.0004433062,0.0009233822,0.01816663,0.0003748289,0.4512615,0.0006546196],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9884508,0.004756391,0.0008065221,0.0001932095,0.0007593991,0.0002842446,0.0000614996,0.00005739586,0.004630492],"genre_scores_gemma":[0.9879765,0.003600287,0.001016859,0.001763128,0.00007611264,0.00002895394,0.0002227887,0.00009468354,0.005220706],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2059524,"threshold_uncertainty_score":0.9999507,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02178844414252048,"score_gpt":0.2983027853393913,"score_spread":0.2765143411968708,"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."}}