{"id":"W2100208786","doi":"10.1002/humu.21186","title":"Evidence for genetic heterogeneity in D-2-hydroxyglutaric aciduria","year":2009,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":74,"is_retracted":false,"has_abstract":true,"ca_institutions":"Centre hospitalier universitaire de Québec","funders":"","keywords":"Biology; Hum; Mutation; Genetics; Enzyme; Gene; Dehydrogenase; Molecular biology; Internal medicine; Endocrinology; Biochemistry; Medicine","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":[0.0004200343,0.0004498331,0.0004313082,0.001590132,0.0003931346,0.0005751259,0.0003292802,0.000609352,0.001500262],"category_scores_gemma":[0.002956884,0.0002672534,0.0002816356,0.0007422313,0.0008053331,0.0003096682,0.0004685743,0.0002406445,0.0002369127],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001697689,"about_ca_system_score_gemma":0.0001252525,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0006870276,"about_ca_topic_score_gemma":0.0005717098,"domain_scores_codex":[0.9995114,0.0001093169,0.00007679994,0.0001472294,0.00007939941,0.00007582908],"domain_scores_gemma":[0.9988294,0.0004957623,0.0003134504,0.0001138212,0.00007485916,0.0001726714],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0008054448,0.00009443255,0.9525694,0.00004123061,0.0001512023,0.009016423,0.0005818467,0.000173157,0.03179751,0.0002357517,0.00008851866,0.004444989],"study_design_scores_gemma":[0.0001414244,0.0007858287,0.942591,0.00001960208,0.0001295008,0.05015336,0.0004269404,0.000582609,0.004123407,0.0004498406,0.0005698255,0.00002669716],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9996071,0.0001426015,0.00007832981,0.00001518356,0.000001969254,0.000003880187,0.0000250831,0.000002621953,0.0001231299],"genre_scores_gemma":[0.9997823,0.00004062952,0.0000748127,0.00001219027,0.000006043371,0.000002666337,0.00005432528,0.000001862966,0.00002511812],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001590132,"threshold_uncertainty_score":0.00501883,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04356843477259906,"score_gpt":0.337347800387907,"score_spread":0.2937793656153079,"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."}}