{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000112619,0.0009103071,0.000353968,0.0006948195,0.0004023279,0.0003359413,0.0002546663,0.0006433777,0.002422422],"category_scores_gemma":[0.0002328049,0.0001543775,0.000476139,0.0003244649,0.0005919289,0.0002644654,0.000427334,0.0007532412,0.0004023306],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002050214,"about_ca_system_score_gemma":0.0001481044,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00150829,"about_ca_topic_score_gemma":0.003374362,"domain_scores_codex":[0.99984,0.00001399237,0.00002930173,0.00006057526,0.00003334133,0.00002263431],"domain_scores_gemma":[0.9996711,0.00006017215,0.0001273704,0.00003362423,0.00002417451,0.00008350716],"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":[0.0001207574,0.00002764085,0.005961065,0.000050783,0.00004407334,0.01199267,0.0001400856,0.00008076133,0.9796413,0.0001421891,0.00008874704,0.001709968],"study_design_scores_gemma":[0.00002732553,0.0005954372,0.2350469,0.00005731309,0.0002329847,0.1710456,0.0005609991,0.000982476,0.5863538,0.0006881182,0.004326694,0.00008244172],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9940095,0.0003911696,0.002908373,0.00008983321,0.00002983097,0.00002901324,0.0007353001,0.0001126905,0.001694191],"genre_scores_gemma":[0.9957456,0.0003260598,0.001951717,0.00007208173,0.00001041303,0.00001758541,0.000639113,0.00005747608,0.001180002],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002422422,"threshold_uncertainty_score":0.008103788,"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."}}