{"id":"W2949858255","doi":"10.1016/j.ymgmr.2019.100482","title":"D-2-hydroxyglutaric aciduria in a patient with speech delay due to a novel homozygous deletion in the D2HGDH gene","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism Reports","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":4,"is_retracted":false,"has_abstract":true,"ca_institutions":"Alberta Children's Hospital; University of Calgary","funders":"","keywords":"Medicine; Gene deletion; Genetics; Gene; Hearing loss; Audiology; Speech delay; Pediatrics; Biology","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":[0.0001242488,0.001314398,0.0004884902,0.00104057,0.0006713857,0.0005009804,0.0004035233,0.001302987,0.001372877],"category_scores_gemma":[0.0007607979,0.0003709162,0.0003189539,0.0004926909,0.0007500142,0.0003207979,0.0005757377,0.0004690364,0.0003530454],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002642719,"about_ca_system_score_gemma":0.0003357153,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001099935,"about_ca_topic_score_gemma":0.001059109,"domain_scores_codex":[0.9998316,0.00001525622,0.00002146835,0.00006418503,0.00003134504,0.00003616435],"domain_scores_gemma":[0.9995777,0.0001680239,0.0000733662,0.00001569062,0.00002449252,0.0001406008],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0001476382,0.0000517485,0.01814097,0.0000504426,0.00002111266,0.9481949,0.000556457,0.0001759822,0.02935891,0.0001831514,0.0001539492,0.002964749],"study_design_scores_gemma":[0.0000440152,0.0002083455,0.0178186,0.00000991972,0.0000421203,0.9724895,0.0002110839,0.00046567,0.007760182,0.0001643697,0.0007671246,0.00001903643],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9974601,0.0003518141,0.0008303946,0.0002166342,0.00002517785,0.00001460055,0.0001316931,0.00004470392,0.0009250187],"genre_scores_gemma":[0.998921,0.0001451517,0.0004111957,0.00006100151,0.00003081381,0.000004585366,0.00005371083,0.000008450168,0.0003640745],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001372877,"threshold_uncertainty_score":0.004592717,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.00309426828708768,"score_gpt":0.1972175840662486,"score_spread":0.1941233157791609,"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."}}