{"id":"W4243669985","doi":"10.1177/0883073819881259","title":"Expanding the Phenotype: Neurodevelopmental Disorder, Mitochondrial, With Abnormal Movements and Lactic Acidosis, With or Without Seizures (NEMMLAS) Due to WARS2 Biallelic Variants, Encoding Mitochondrial Tryptophanyl-tRNA Synthase","year":2019,"lang":"en","type":"letter","venue":"Journal of Child Neurology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":1,"is_retracted":false,"has_abstract":false,"ca_institutions":"McMaster University","funders":"","keywords":"Lactic acidosis; Phenotype; Mitochondrial DNA; Mitochondrion; Biology; Genetics; ATP synthase; Mitochondrial disease; Medicine; Gene; Endocrinology","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":[0.00063526,0.002163423,0.001110703,0.001006748,0.001797786,0.001197211,0.001547062,0.01344457,0.003703197],"category_scores_gemma":[0.00501584,0.0004667896,0.0009645361,0.0007967611,0.001437415,0.001592695,0.0008937449,0.006596268,0.001321472],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.001963917,"about_ca_system_score_gemma":0.001153987,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.004608824,"about_ca_topic_score_gemma":0.00419621,"domain_scores_codex":[0.9992748,0.0001203228,0.0001034422,0.0001936893,0.0001307792,0.0001769753],"domain_scores_gemma":[0.9987268,0.000594789,0.0001202928,0.00006320202,0.0001651591,0.0003298069],"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":[0.0001154312,0.00003618009,0.001790746,0.00003931501,0.00001405019,0.9766186,0.0001159697,0.0001275562,0.0007773079,0.001173062,0.01734147,0.001850273],"study_design_scores_gemma":[0.0001666728,0.0001412196,0.01039375,0.0001104115,0.00006079004,0.9575062,0.0002642284,0.002307886,0.0008711455,0.004044276,0.02407766,0.00005575945],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"commentary","genre_gemma":"empirical","genre_scores_codex":[0.2595003,0.005868612,0.004028037,0.6286089,0.02856676,0.0004605529,0.001865807,0.0005298616,0.07057124],"genre_scores_gemma":[0.7897489,0.003828256,0.004223981,0.1171598,0.05153619,0.0002145826,0.0006027789,0.0002078632,0.03247767],"genre_candidate":"empirical","genre_consensus":null,"teacher_disagreement_score":0.01344457,"threshold_uncertainty_score":0.01424927,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.009404199845313595,"score_gpt":0.2308280773677805,"score_spread":0.2214238775224669,"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."}}