{"id":"W2279226497","doi":"10.1016/j.ymgmr.2016.02.003","title":"The expanding phenotype of MELAS caused by the m.3291T > C mutation in the MT-TL1 gene","year":2016,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":15,"is_retracted":false,"has_abstract":true,"ca_institutions":"Children’s Health Research Institute; Western University; London Health Sciences Centre","funders":"","keywords":"Chronic progressive external ophthalmoplegia; Lactic acidosis; Mitochondrial myopathy; Medicine; Phenotype; Myoclonic epilepsy; Encephalopathy; Mitochondrial DNA; Mutation; Mitochondrial disease; Genetics; Mitochondrial Encephalomyopathies; MELAS syndrome; Epilepsy; External ophthalmoplegia; Internal medicine; Pathology; Biology; 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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0006992614,0.0001513544,0.0001545861,0.00002847899,0.000146316,0.00003299658,0.0001660926,0.0001217987,0.000007503366],"category_scores_gemma":[0.0001963318,0.00006946619,0.00008124552,0.0001089658,0.000169341,0.000002827448,0.00007865462,0.00007276118,0.000001058715],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000004188357,"about_ca_system_score_gemma":0.00004948012,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000190447,"about_ca_topic_score_gemma":0.00003698663,"domain_scores_codex":[0.9986091,0.0002634673,0.0003817091,0.0003104245,0.0002110909,0.0002241912],"domain_scores_gemma":[0.999011,0.00005244714,0.0002218311,0.0005822566,0.00008827561,0.0000442109],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000258764,0.00001837528,0.0002807308,0.000002572351,0.00003340012,0.00003503657,0.0001325652,0.00001669372,0.9907515,0.0004586382,0.0009935079,0.007251108],"study_design_scores_gemma":[0.0005078251,0.00008847039,0.005215708,0.000006437571,0.00007145989,0.0002033367,0.0001040809,0.00001066076,0.7563347,0.00105331,0.2362532,0.0001508689],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9682269,0.01748597,0.01213884,0.0007594361,0.0006102971,0.0003509596,0.000009710536,0.000004335237,0.0004135724],"genre_scores_gemma":[0.996496,0.002250639,0.0002056894,0.0004142048,0.00014313,0.00004860136,0.00002512417,0.00001930875,0.0003973338],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.2352597,"threshold_uncertainty_score":0.2832749,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007247743107732694,"score_gpt":0.2360402619996489,"score_spread":0.2287925188919162,"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."}}