{"id":"W4313362323","doi":"10.3390/genes14010108","title":"A De Novo Missense Variant in TUBG2 in a Child with Global Developmental Delay, Microcephaly, Refractory Epilepsy and Perisylvian Polymicrogyria","year":2022,"lang":"en","type":"article","venue":"Genes","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Newborn Screening Ontario; Children's Hospital of Eastern Ontario","funders":"Canadian Institutes of Health Research; Genome Canada","keywords":"Polymicrogyria; Microcephaly; Global developmental delay; Clobazam; Missense mutation; Epilepsy; Medicine; Intellectual disability; Neuroscience; Pediatrics; Biology; Genetics; Mutation; Psychiatry; Gene; Phenotype","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":[0.0001580471,0.001572747,0.0006909697,0.001186753,0.0007601861,0.0004881127,0.000590254,0.002181366,0.001628411],"category_scores_gemma":[0.0009398024,0.0003752477,0.0005565009,0.0008437788,0.0009657366,0.000441846,0.0009009955,0.0009792816,0.0003746197],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0005963402,"about_ca_system_score_gemma":0.0004912665,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.003481344,"about_ca_topic_score_gemma":0.004207986,"domain_scores_codex":[0.9997168,0.00002183489,0.00003051244,0.0001127515,0.00006204074,0.00005603059],"domain_scores_gemma":[0.9995704,0.0001530773,0.00008921456,0.00001643147,0.00002883188,0.0001419273],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.00008102827,0.00005678819,0.006067033,0.00004708163,0.00001689693,0.9778176,0.0004952961,0.0002131312,0.01261488,0.0002049856,0.000306925,0.002078272],"study_design_scores_gemma":[0.00002547768,0.0002038476,0.03134357,0.0000269308,0.00004615608,0.9583843,0.0002769566,0.0005990241,0.007475286,0.0001992896,0.001393781,0.00002537814],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9954587,0.0005072548,0.001138479,0.0006999465,0.0000870933,0.00003992963,0.0006069867,0.0000834707,0.001378149],"genre_scores_gemma":[0.9964715,0.0003789033,0.001067983,0.0002343543,0.00006797872,0.00001595022,0.0002776881,0.00003851093,0.001447242],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003481344,"threshold_uncertainty_score":0.006922185,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005193609347707961,"score_gpt":0.2111018430250688,"score_spread":0.2059082336773609,"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."}}