{"id":"W4387637010","doi":"10.1055/s-0043-1772606","title":"SCL19A3 gene mutation with Leigh-like phenotype presentation: a potentially treatable disease","year":2023,"lang":"en","type":"article","venue":"Arquivos de Neuro-Psiquiatria","topic":"Ion Transport and Channel Regulation","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; McGill University Health Centre; Montreal Neurological Institute and Hospital","funders":"","keywords":"Hypoactivity; Exome sequencing; Neuroimaging; Basal ganglia; Phenotype; Midbrain; Mutation; Compound heterozygosity; Cerebellum; Neurogenetics; Medicine; Pathology; Genetics; Gene; Neuroscience; Biology; Disease; Central nervous system","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":[],"consensus_categories":[],"category_scores_codex":[0.0001178391,0.0002003316,0.0001337945,0.0001000402,0.0001557767,0.00005096715,0.0001553396,0.00009989348,0.00004468437],"category_scores_gemma":[0.00003033785,0.0001883117,0.0001022462,0.0003544125,0.00005350784,0.00002138065,0.00003579542,0.00007351038,0.00006035672],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001527175,"about_ca_system_score_gemma":0.000168291,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003417621,"about_ca_topic_score_gemma":0.00005247409,"domain_scores_codex":[0.9986426,0.00006575655,0.00022062,0.0004560213,0.0002561552,0.0003588448],"domain_scores_gemma":[0.9992453,0.00001673486,0.00009902468,0.0003453297,0.0001142266,0.0001793843],"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":[0.005083563,0.0002859655,0.03860967,0.0001788843,0.0002757927,0.0006073513,0.0004192548,0.04079578,0.8943766,0.0004863208,0.0144579,0.00442289],"study_design_scores_gemma":[0.01075623,0.002252542,0.5824915,0.00006851936,0.0009536383,0.000137637,0.0002932986,0.01118429,0.3373183,0.00168959,0.05106683,0.001787564],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9911386,0.0002072207,0.007025023,0.000527518,0.0003001174,0.0003910864,0.00004500201,0.0001153717,0.000250021],"genre_scores_gemma":[0.9939745,0.0001674255,0.0004860521,0.000324484,0.0005910905,0.00006301912,0.00197286,0.00005603402,0.002364501],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.5570583,"threshold_uncertainty_score":0.7679128,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0095229024099369,"score_gpt":0.2290053550175971,"score_spread":0.2194824526076602,"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."}}