{"id":"W2485552609","doi":"10.1016/j.ymgme.2016.07.008","title":"Unravelling 5-oxoprolinuria (pyroglutamic aciduria) due to bi-allelic OPLAH mutations: 20 new mutations in 14 families","year":2016,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Biochemical and Molecular Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":12,"is_retracted":false,"has_abstract":false,"ca_institutions":"Child and Family Research Institute; BC Children's Hospital; Children's Hospital of Eastern Ontario; University of British Columbia","funders":"","keywords":"Compound heterozygosity; Genetics; Allele; Mutation; Inborn error of metabolism; Heterozygote advantage; Genotype; Biology; Phenotype; Hemolytic anemia; Medicine; Gene; Immunology; Endocrinology","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":["metaepi_narrow"],"consensus_categories":[],"category_scores_codex":[0.0002285061,0.0003207399,0.0003140605,0.0002496761,0.00009241857,0.00007033156,0.000322168,0.0002759676,0.00002415373],"category_scores_gemma":[0.0002050844,0.0002691431,0.0001269404,0.0003333884,0.0001428907,0.000007156339,0.0002779705,0.0001480361,0.00003712064],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.00001742238,"about_ca_system_score_gemma":0.0001973077,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00007085558,"about_ca_topic_score_gemma":0.0001229571,"domain_scores_codex":[0.9978294,0.0001154007,0.0004001146,0.0007490948,0.0003150676,0.0005908714],"domain_scores_gemma":[0.9988294,0.0000229718,0.00006557878,0.0005064154,0.0001516219,0.0004239599],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0000591909,0.00005489801,0.0001770234,0.00001375209,0.00006094604,0.00003934549,0.0001098735,0.0001447433,0.9719407,0.000468113,0.0002431163,0.02668831],"study_design_scores_gemma":[0.001953056,0.0001412136,0.003637011,0.00004927481,0.00005611355,0.000048845,0.00006278112,0.00008647821,0.9222293,0.003302621,0.06791996,0.0005133679],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9417894,0.01002824,0.04577548,0.001335454,0.0001858165,0.0005464807,0.0000464092,0.00001967052,0.0002730276],"genre_scores_gemma":[0.9858035,0.002327715,0.009375273,0.0007963916,0.0002288297,0.0001002929,0.0001183865,0.00007198557,0.001177567],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.06767684,"threshold_uncertainty_score":0.9999761,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01168908767623147,"score_gpt":0.2646442307553524,"score_spread":0.252955143079121,"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."}}