{"id":"W3157396950","doi":"10.1172/jci143078","title":"C2orf69 mutations disrupt mitochondrial function and cause a multisystem human disorder with recurring autoinflammation","year":2021,"lang":"en","type":"article","venue":"Journal of Clinical Investigation","topic":"Mitochondrial Function and Pathology","field":"Biochemistry, Genetics and Molecular Biology","cited_by":23,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of British Columbia Hospital; BC Children's Hospital","funders":"RWTH Aachen University; Deutsche Forschungsgemeinschaft","keywords":"Function (biology); Medicine; Mutation; Genetics; Biology; 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":[0.000139588,0.001318486,0.0003521558,0.0005829583,0.0005221405,0.0002185771,0.0001850582,0.0008345569,0.001287071],"category_scores_gemma":[0.0003929681,0.0001108677,0.0002406179,0.0004086638,0.0004938584,0.0001538643,0.0003690647,0.0003157032,0.000189862],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002942044,"about_ca_system_score_gemma":0.0002003433,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0007982327,"about_ca_topic_score_gemma":0.001527889,"domain_scores_codex":[0.9998176,0.00002333266,0.00002264552,0.00006566136,0.00003840732,0.00003242442],"domain_scores_gemma":[0.9998017,0.00003942563,0.00007884312,0.00001668696,0.00001531755,0.00004794411],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.001230418,0.000196968,0.05712369,0.0002087279,0.0001779696,0.1476303,0.0003749382,0.0007836577,0.7734005,0.0007552015,0.001275011,0.01684252],"study_design_scores_gemma":[0.0001539513,0.0009165463,0.3977452,0.00009609404,0.0002417198,0.4269951,0.0003227263,0.002877478,0.1629072,0.0009239701,0.006742523,0.00007749598],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9972127,0.0005306684,0.001006911,0.00009826626,0.0000185718,0.00002774491,0.0003162939,0.00006840545,0.0007204959],"genre_scores_gemma":[0.9986156,0.0001416721,0.0007147077,0.00004494352,0.00001710538,0.000006958636,0.0002019667,0.00001007256,0.0002469422],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001318486,"threshold_uncertainty_score":0.004305661,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04262870252707986,"score_gpt":0.341270778211756,"score_spread":0.2986420756846762,"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."}}