{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001345114,0.0001331204,0.0001328964,0.00005730563,0.00009861856,0.00001394725,0.00009256483,0.00008924537,0.0001161922],"category_scores_gemma":[0.00001381188,0.0001335935,0.00002431734,0.0001360892,0.00004891783,0.000002671445,0.0001390969,0.0001154522,0.000002810246],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0000715628,"about_ca_system_score_gemma":0.0001808655,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002178646,"about_ca_topic_score_gemma":0.001249592,"domain_scores_codex":[0.9990555,0.0001202266,0.0001631455,0.0003465691,0.00006169706,0.000252868],"domain_scores_gemma":[0.9997587,0.000005220187,0.00003938958,0.0001183019,0.00001238696,0.00006606697],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.001532332,0.000224475,0.1018795,0.00001637367,0.00004371699,0.003492605,0.000725278,0.00006757894,0.8838668,0.00005034076,0.0004706625,0.007630324],"study_design_scores_gemma":[0.0129191,0.002798877,0.1629748,0.00006349806,0.0000620804,0.2551996,0.006646542,0.0001382867,0.06506801,0.0001364763,0.4921809,0.001811799],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.996243,0.00234934,0.0001613399,0.0001602258,0.0001323889,0.0001435866,0.00004785828,0.00000660297,0.0007556474],"genre_scores_gemma":[0.9950258,0.0001458973,0.003564623,0.0008084908,0.00008566001,0.0000482312,0.00008747645,0.00001493559,0.000218874],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8187988,"threshold_uncertainty_score":0.5447784,"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."}}