{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001081995,0.000735076,0.000357655,0.0006683335,0.0004105526,0.000233813,0.0002173419,0.0005322199,0.002012446],"category_scores_gemma":[0.000472728,0.0001496168,0.0002590525,0.0004316912,0.0004478266,0.0002502791,0.0004172018,0.0003973284,0.0006241648],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001509476,"about_ca_system_score_gemma":0.000147091,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008791731,"about_ca_topic_score_gemma":0.001331875,"domain_scores_codex":[0.9999222,0.00001195116,0.00001036355,0.00002299733,0.00001404859,0.00001850414],"domain_scores_gemma":[0.999747,0.00005564599,0.00009252303,0.00001382019,0.00001875089,0.00007240087],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"observational","study_design_scores_codex":[0.00012679,0.00004773912,0.04343615,0.00007192194,0.00001768618,0.8702988,0.0003919813,0.000125372,0.07746693,0.0002224459,0.0003607554,0.007433499],"study_design_scores_gemma":[0.000005964045,0.00009221454,0.04522961,0.00001377898,0.00001755281,0.9503467,0.0001041583,0.0001854594,0.002762909,0.0001102948,0.001121324,0.00000985948],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9930035,0.0009013229,0.0009371865,0.0002301354,0.00003108864,0.00002401055,0.0001745303,0.00005520164,0.004643001],"genre_scores_gemma":[0.9979467,0.0004563347,0.0004164164,0.00008661284,0.00004261228,0.000005559451,0.00008918719,0.00001470394,0.0009419595],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002012446,"threshold_uncertainty_score":0.006732225,"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."}}