{"id":"W1993672713","doi":"10.1126/science.1192632","title":"<i>IDH2</i> Mutations in Patients with <scp>d</scp> -2-Hydroxyglutaric Aciduria","year":2010,"lang":"en","type":"article","venue":"Science","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":194,"is_retracted":false,"has_abstract":true,"ca_institutions":"BC Children's Hospital; Hospital for Sick Children","funders":"","keywords":"Isocitrate dehydrogenase; IDH2; IDH1; Enzyme; Somatic cell; Germline; Mutation; Biology; Gene; Germline mutation; Biochemistry; Genetics; Molecular biology; Chemistry","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":[0.0001613962,0.0006709945,0.0002872394,0.001209788,0.0008094249,0.0006414497,0.0003067735,0.0009630581,0.001361367],"category_scores_gemma":[0.001066861,0.0004066334,0.000218429,0.0007949842,0.0007249653,0.0003796688,0.0003115209,0.0004450037,0.0002198081],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003078235,"about_ca_system_score_gemma":0.0002529578,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001911965,"about_ca_topic_score_gemma":0.0015596,"domain_scores_codex":[0.9997726,0.00002793323,0.00002942183,0.00009003442,0.00004172268,0.00003822662],"domain_scores_gemma":[0.9996009,0.0001044385,0.0001097513,0.00002465362,0.00002988747,0.000130352],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000823928,0.000190174,0.8217611,0.00005086057,0.00008789403,0.1278916,0.001082108,0.0003365018,0.03813375,0.0003675511,0.0007130251,0.008561366],"study_design_scores_gemma":[0.0001272147,0.0006747344,0.5721847,0.00002846897,0.0001473453,0.4161899,0.0005917685,0.0007257666,0.007373495,0.0005145356,0.001403139,0.0000388935],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9986823,0.0001504645,0.0001315791,0.00008152755,0.000008694969,0.000008211312,0.00006883553,0.00001367248,0.0008547376],"genre_scores_gemma":[0.9996796,0.00004478793,0.00009325379,0.00003545484,0.00001005019,0.000002573948,0.00003734026,0.000002955964,0.00009400419],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001911965,"threshold_uncertainty_score":0.004554212,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.002332745451144696,"score_gpt":0.2036246794790187,"score_spread":0.201291934027874,"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."}}