{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002034627,0.003091136,0.0007880557,0.001199327,0.001003754,0.0004564892,0.000568503,0.001108938,0.005714313],"category_scores_gemma":[0.0006139937,0.0001819185,0.0005441746,0.0009858171,0.0008746947,0.0003298969,0.0008622524,0.0007595764,0.001139289],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005357846,"about_ca_system_score_gemma":0.0005633424,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004181203,"about_ca_topic_score_gemma":0.003360681,"domain_scores_codex":[0.9996259,0.000044915,0.00004079149,0.0001367925,0.0001069616,0.0000445863],"domain_scores_gemma":[0.9997022,0.00007296781,0.00008259817,0.0000168649,0.00003935804,0.00008610822],"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":[0.0008136174,0.0001110853,0.0192126,0.0004861844,0.0002359597,0.7084877,0.0006078448,0.0004909898,0.2361812,0.002139598,0.005561087,0.02567214],"study_design_scores_gemma":[0.000106228,0.0002653039,0.07188239,0.0001782094,0.000253944,0.852204,0.0002559958,0.001911519,0.04523975,0.001209959,0.02642006,0.00007267379],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9632434,0.005730601,0.009815143,0.001894676,0.0004244771,0.0001980039,0.006329936,0.001046938,0.01131688],"genre_scores_gemma":[0.9844226,0.001710236,0.004741731,0.0005197755,0.0001912381,0.00005018558,0.002173387,0.0001776547,0.006013228],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.005714313,"threshold_uncertainty_score":0.01911634,"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."}}