{"id":"W2953910594","doi":"10.1177/0883073819854604","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":"article","venue":"Journal of Child Neurology","topic":"Genomics and Rare Diseases","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":true,"ca_institutions":"McMaster University","funders":"","keywords":"Lactic acidosis; Ataxia; Mitochondrial disease; Compound heterozygosity; Exome sequencing; Neurodevelopmental disorder; Hypotonia; Mitochondrial myopathy; Medicine; Pathology; Bioinformatics; Genetics; Biology; Phenotype; Internal medicine; Mitochondrial DNA; Gene; Psychiatry","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":[0.000122989,0.001478525,0.000316778,0.000596621,0.0004898557,0.0002935564,0.000341604,0.0008415114,0.002048146],"category_scores_gemma":[0.0006083582,0.0001635651,0.0002045504,0.0003848983,0.0005493365,0.0004821357,0.0007447667,0.0006549718,0.0004601057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003313857,"about_ca_system_score_gemma":0.0003745545,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001412705,"about_ca_topic_score_gemma":0.002091702,"domain_scores_codex":[0.9998504,0.00001486378,0.00002333401,0.00004531113,0.00003206514,0.00003393459],"domain_scores_gemma":[0.9997761,0.00003733453,0.00007372216,0.000008965621,0.00002458787,0.00007935911],"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":[0.00009005427,0.00002425091,0.01853952,0.00008588909,0.00001812354,0.9630929,0.0001761658,0.0001467793,0.01169247,0.0003103536,0.0008449226,0.004978648],"study_design_scores_gemma":[0.0000108176,0.00008430974,0.0175589,0.00003693586,0.00002006545,0.9770473,0.000138638,0.000282972,0.00257155,0.0002775436,0.001961453,0.000009481971],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9807927,0.003252052,0.003363087,0.001950457,0.0001410774,0.000119689,0.0007523271,0.0002010522,0.009427492],"genre_scores_gemma":[0.9948348,0.001036153,0.001365922,0.0005025646,0.0001000877,0.00001919342,0.0002537186,0.00002611577,0.001861502],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002048146,"threshold_uncertainty_score":0.006851673,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005341971550117654,"score_gpt":0.220731245997136,"score_spread":0.2153892744470183,"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."}}