{"id":"W1985004415","doi":"10.1002/humu.21399","title":"Maternal riboflavin deficiency, resulting in transient neonatal-onset glutaric aciduria Type 2, is caused by a microdeletion in the riboflavin transporter gene GPR172B","year":2010,"lang":"en","type":"article","venue":"Human Mutation","topic":"Metabolism and Genetic Disorders","field":"Biochemistry, Genetics and Molecular Biology","cited_by":120,"is_retracted":false,"has_abstract":true,"ca_institutions":"Montreal Children's Hospital","funders":"","keywords":"Riboflavin; Flavin group; Flavin mononucleotide; Missense mutation; Biology; Flavin adenine dinucleotide; Membrane transport protein; Genetics; Biochemistry; Gene; Transporter; Mutation; Cofactor; Enzyme","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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0004538502,0.0001628376,0.0001272387,0.00008990532,0.00008658457,0.00004293828,0.0002197164,0.0001553407,0.00005849788],"category_scores_gemma":[0.00002038988,0.0001426687,0.00005124896,0.0001829749,0.00006768567,0.000009312665,0.00001146313,0.0001867276,0.00001066787],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000006190603,"about_ca_system_score_gemma":0.00004202177,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0004999469,"about_ca_topic_score_gemma":0.004014865,"domain_scores_codex":[0.9987113,0.00009988078,0.0003638878,0.0003709359,0.0001880119,0.0002659483],"domain_scores_gemma":[0.9995537,0.00000874636,0.0000888175,0.0002685812,0.0000453129,0.00003483921],"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":[0.00007779792,0.00009723698,0.01206555,0.00001774261,0.000006250728,0.000009436046,0.002886433,0.00006970477,0.9810206,0.00001971684,0.0007081357,0.003021416],"study_design_scores_gemma":[0.002193204,0.0001445272,0.7496336,0.00001748684,0.00003181234,0.00002715233,0.0004262126,0.0001515704,0.2397816,0.0002754577,0.006988389,0.000328969],"study_design_candidate":"bench_or_experimental","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981341,0.00047904,0.0005193966,0.0001833292,0.0001948116,0.0003115056,0.00006447805,0.000007058297,0.0001063306],"genre_scores_gemma":[0.9981619,0.00005297519,0.0002603988,0.0003077283,0.00005045661,0.00003015937,0.001009741,0.00001827178,0.0001083949],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.741239,"threshold_uncertainty_score":0.5817862,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.007274982488088466,"score_gpt":0.2501392727269188,"score_spread":0.2428642902388303,"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."}}