{"id":"W2884153974","doi":"10.1016/j.ymgme.2018.07.014","title":"FARS2 deficiency; new cases, review of clinical, biochemical, and molecular spectra, and variants interpretation based on structural, functional, and evolutionary significance","year":2018,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"RNA and protein synthesis mechanisms","field":"Biochemistry, Genetics and Molecular Biology","cited_by":34,"is_retracted":false,"has_abstract":false,"ca_institutions":"Children's Hospital of Eastern Ontario; University of Ottawa","funders":"National Institute of General Medical Sciences; National Institutes of Health; Robert and Janice McNair Foundation","keywords":"Missense mutation; Genetics; Phenotype; Biology; Hereditary spastic paraplegia; splice; Gene; Transfer RNA; RNA","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":[0.0003210461,0.0002341018,0.0003420998,0.00005736434,0.00008718566,0.0000300339,0.00009083408,0.0001689297,0.00002032659],"category_scores_gemma":[0.0003022981,0.0002140952,0.00007022213,0.00009419475,0.0003354841,0.000005799797,0.00007942622,0.00008576446,7.200617e-7],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000003339024,"about_ca_system_score_gemma":0.0001192271,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00002092912,"about_ca_topic_score_gemma":0.000001340135,"domain_scores_codex":[0.9984322,0.0001595262,0.0004139635,0.0006001453,0.0002020038,0.0001922197],"domain_scores_gemma":[0.9990761,0.00004035437,0.00021796,0.0003356935,0.0001368229,0.0001930756],"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":[0.0001188456,0.0000296071,0.0001289188,0.0002553757,0.00004488053,0.000007046771,0.00001298007,0.000008193922,0.9756695,0.0005559688,0.0003571855,0.02281152],"study_design_scores_gemma":[0.001447576,0.001438973,0.0132598,0.0006849454,0.0003821249,0.0001233034,0.00002557722,0.001339906,0.9614333,0.00276898,0.01645748,0.0006380422],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.7680365,0.2117447,0.0193953,0.0001789519,0.0001229509,0.0003829031,0.00003022688,0.000005901325,0.0001026455],"genre_scores_gemma":[0.9478857,0.03731201,0.01296081,0.001625768,0.0001134888,0.00001817346,0.00003744496,0.0000251892,0.00002144904],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1798492,"threshold_uncertainty_score":0.8730547,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01756464871164083,"score_gpt":0.2848989320342447,"score_spread":0.2673342833226039,"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."}}