{"id":"W2117943421","doi":"10.1016/j.jmb.2008.01.035","title":"Structure–Function Defects of the TWINKLE Linker Region in Progressive External Ophthalmoplegia","year":2008,"lang":"en","type":"article","venue":"Journal of Molecular Biology","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":67,"is_retracted":false,"has_abstract":false,"ca_institutions":"","funders":"Swedish Cancer Foundation; Cancer Research Society","keywords":"Mitochondrial DNA; Gene; Biology; Genetics; Mutation; Helicase; Phenotype; DNA; DNA replication; Bacteriophage; External ophthalmoplegia; RNA","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001377213,0.0001320694,0.0002380823,0.0001025811,0.00004255642,0.000003181566,0.000238992,0.0002973437,0.00002890095],"category_scores_gemma":[0.0002125516,0.00008979948,0.000212835,0.0001392156,0.0001841809,0.000004386432,0.00007966754,0.0002595091,0.000001079794],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001477509,"about_ca_system_score_gemma":0.0001258984,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000005169274,"about_ca_topic_score_gemma":0.00000580025,"domain_scores_codex":[0.9987766,0.0003373335,0.0004170321,0.0001825212,0.000112378,0.0001741806],"domain_scores_gemma":[0.9989865,0.00001503972,0.0004974894,0.0002545553,0.0001951036,0.00005129533],"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":[0.0004297379,0.00005180121,0.04907951,0.000006953551,0.000035619,0.000127732,0.00003896866,0.000169056,0.9493056,0.0001615361,0.0002524742,0.0003410201],"study_design_scores_gemma":[0.001879859,0.002044959,0.04011879,0.00005453851,0.00004480211,0.008147299,0.00002759206,0.000008334286,0.9418764,0.001787225,0.003835615,0.0001746282],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9835521,0.001836266,0.01304554,0.00009617687,0.001180738,0.0001385712,0.000003291315,0.0000016867,0.0001456146],"genre_scores_gemma":[0.9978899,0.00008300194,0.001286214,0.0003151122,0.0003308389,0.000002659177,0.000006852718,0.0000128568,0.00007255071],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.0143378,"threshold_uncertainty_score":0.3661917,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01184784022847406,"score_gpt":0.2575928719284649,"score_spread":0.2457450316999908,"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."}}