{"id":"W2464778863","doi":"10.1016/j.ymgmr.2016.07.002","title":"Response to: Letter to the Editor Regarding: The Expanding Phenotype of MELAS Caused by the m.3291 T > C tRNA Mutation E Kelland, C. A. Rupar, Asuri N. Prasad, K. Y. Tay, A. Downie and C. Prasad (1) by Josef Finsterer, MD, PhD [1], Sinda Zarrouk-Mahjoub, PhD [2] [1] Krankenanstalt Rudolfstiftung, Vienna [2] Genomics Platform, Pasteur Institute of Tunis, Tunisia","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":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"Western University; Children’s Health Research Institute; London Health Sciences Centre","funders":"","keywords":"Prasad; Mutation; Transfer RNA; Genetics; Phenotype; Philosophy; Biology; RNA; Theology; Gene","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":[0.002068199,0.001340464,0.002089039,0.0008754223,0.001569343,0.001934584,0.002781761,0.02191745,0.01266375],"category_scores_gemma":[0.02357486,0.0005841907,0.001248977,0.000517839,0.00168171,0.003326393,0.001345912,0.01927195,0.01058529],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.002129429,"about_ca_system_score_gemma":0.001648366,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001796868,"about_ca_topic_score_gemma":0.001728885,"domain_scores_codex":[0.9983447,0.0005073709,0.0003041936,0.0002511473,0.0003818897,0.000210756],"domain_scores_gemma":[0.9941306,0.002545562,0.0004690526,0.000174018,0.001862375,0.0008183614],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"not_applicable","study_design_gemma":"not_applicable","study_design_scores_codex":[0.00006092624,0.0000221014,0.0003030977,0.0001075373,0.00001261726,0.00333448,0.00008336848,0.00004420173,0.0001092955,0.000273375,0.9926536,0.002995408],"study_design_scores_gemma":[0.0001460793,0.0001249576,0.001918317,0.0005819746,0.0000607997,0.02002327,0.0007318309,0.0005887463,0.000614783,0.002017583,0.9730584,0.0001333227],"study_design_candidate":"not_applicable","study_design_consensus":"not_applicable","genre_codex":"commentary","genre_gemma":"commentary","genre_scores_codex":[0.0008924833,0.002403341,0.0002245175,0.8101037,0.1843919,0.00004551473,0.0001770909,0.0001976306,0.001563778],"genre_scores_gemma":[0.008363702,0.002579212,0.0004428712,0.7745407,0.2032417,0.0000818632,0.000159354,0.0001351073,0.01045551],"genre_candidate":"commentary","genre_consensus":"commentary","teacher_disagreement_score":0.02191745,"threshold_uncertainty_score":0.04236448,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01143422276985605,"score_gpt":0.2315911980841552,"score_spread":0.2201569753142991,"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."}}