{"id":"W3085561812","doi":"10.1002/jimd.12312","title":"The phenotype associated with variants in <scp><i>TANGO2</i></scp> may be explained by a dual role of the protein in <scp>ER‐to‐Golgi</scp> transport and at the mitochondria","year":2020,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":54,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Concordia University","funders":"Natural Sciences and Engineering Research Council of Canada; Canadian Institutes of Health Research; Bundesministerium für Bildung und Forschung; Deutsche Forschungsgemeinschaft","keywords":"Endoplasmic reticulum; Golgi apparatus; Mitochondrion; Phenotype; Biology; Cell biology; Lactic acidosis; Transport protein; Biochemistry; Gene","routes":{"ca_aff":true,"ca_fund":true,"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":[0.0004669422,0.0002399781,0.0003788194,0.00005990978,0.0001211486,0.00002962008,0.0003503225,0.0001499102,0.000009784278],"category_scores_gemma":[0.002301714,0.0001309298,0.0001501668,0.0005468349,0.000170885,0.00001545998,0.00009236174,0.0003400963,0.000001443223],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001703189,"about_ca_system_score_gemma":0.000248992,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000185098,"about_ca_topic_score_gemma":0.000256171,"domain_scores_codex":[0.9979273,0.0005065366,0.000586945,0.0002882493,0.0003539457,0.0003370201],"domain_scores_gemma":[0.9986075,0.0001545183,0.0004426014,0.0003046867,0.0001717749,0.0003189173],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008283617,0.000232558,0.01178367,0.00001742583,0.0001710557,0.00004442279,0.001705897,0.0001173847,0.9785705,0.00006490108,0.006154253,0.0003096219],"study_design_scores_gemma":[0.01058328,0.001402979,0.4241889,0.0002360962,0.0005736438,0.00007585929,0.006162359,0.0001753454,0.1233454,0.0001977895,0.4328013,0.0002571135],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.992007,0.004671443,0.00004915092,0.002086846,0.0001817945,0.0006563806,0.0001704835,0.000005093897,0.0001717695],"genre_scores_gemma":[0.99625,0.0003501447,0.000117138,0.002105645,0.0002456217,0.00005973969,0.00003733368,0.00003767024,0.0007967073],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.8552251,"threshold_uncertainty_score":0.5339163,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007869054278498084,"score_gpt":0.2101431343858748,"score_spread":0.2022740801073767,"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."}}