{"id":"W2589130425","doi":"10.1007/s10545-017-0015-9","title":"Mild orotic aciduria in <i>UMPS</i> heterozygotes: a metabolic finding without clinical consequences","year":2017,"lang":"en","type":"article","venue":"Journal of Inherited Metabolic Disease","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":21,"is_retracted":false,"has_abstract":true,"ca_institutions":"Princess Margaret Cancer Centre; University of Toronto; Health and Social Services Centre University Institute of Geriatrics of Sherbrooke; Centre Hospitalier Universitaire de Sherbrooke; Université de Sherbrooke","funders":"Paracelsus Medizinische Privatuniversität","keywords":"Heterozygote advantage; Orotic acid; Human genetics; Medicine; Internal medicine; Endocrinology; Biology; Genetics; Genotype; 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":[0.0002162995,0.001378602,0.0005305234,0.001072582,0.0004870872,0.0004340697,0.0003178647,0.0008425335,0.004077536],"category_scores_gemma":[0.001353923,0.0002455942,0.0003379606,0.0003662745,0.0007592056,0.0002272218,0.000500432,0.0004593456,0.0005960185],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0001553495,"about_ca_system_score_gemma":0.0002108113,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0008098021,"about_ca_topic_score_gemma":0.0007405385,"domain_scores_codex":[0.9997419,0.00003051768,0.00003598099,0.00009081568,0.00004170812,0.00005914885],"domain_scores_gemma":[0.9994253,0.0001412,0.0001710506,0.00003402351,0.00004392895,0.0001844651],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"case_report","study_design_scores_codex":[0.001932002,0.0002098129,0.4087304,0.0004357181,0.0002262956,0.3846456,0.0006430349,0.0002921656,0.1802534,0.0005670338,0.001708374,0.02035617],"study_design_scores_gemma":[0.00006323239,0.0009696354,0.3036267,0.0001151304,0.0002540251,0.6689905,0.0003552678,0.0005390708,0.02174764,0.0004112474,0.002878233,0.00004932637],"study_design_candidate":"case_report","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9953548,0.0006734633,0.0008221847,0.000129601,0.00004010275,0.0000290314,0.0002073559,0.00009413211,0.002649326],"genre_scores_gemma":[0.99891,0.0001825929,0.0004010237,0.00008593083,0.00003880031,0.000005827086,0.00008608677,0.00001796958,0.0002716922],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.004077536,"threshold_uncertainty_score":0.0136407,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0634856248219494,"score_gpt":0.392713924358239,"score_spread":0.3292282995362896,"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."}}