{"id":"W2961240848","doi":"10.1016/j.ymgme.2019.07.001","title":"Aspartylglycosamine is a biomarker for NGLY1-CDDG, a congenital disorder of deglycosylation","year":2019,"lang":"en","type":"article","venue":"Molecular Genetics and Metabolism","topic":"Endoplasmic Reticulum Stress and Disease","field":"Biochemistry, Genetics and Molecular Biology","cited_by":52,"is_retracted":false,"has_abstract":false,"ca_institutions":"BC Children's Hospital; University of British Columbia","funders":"Michael Smith Health Research BC; Canadian Institutes of Health Research; BC Children’s Hospital Foundation","keywords":"Biomarker; Asparagine; Chemistry; Medicine; Internal medicine; Biochemistry; Amino acid","routes":{"ca_aff":true,"ca_fund":true,"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":[0.00008516142,0.0001965177,0.000235441,0.00005867169,0.00003610564,0.00002333311,0.000113425,0.0001302557,0.00003463361],"category_scores_gemma":[0.00004092216,0.0001837324,0.0001604459,0.00007492677,0.00007192078,0.000003658605,0.00009742856,0.00003590037,0.000003772213],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002296267,"about_ca_system_score_gemma":0.00004821118,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0000148537,"about_ca_topic_score_gemma":0.000006157568,"domain_scores_codex":[0.9989367,0.00003099836,0.0002535601,0.0003901947,0.0001493375,0.0002392795],"domain_scores_gemma":[0.9992516,0.0000121561,0.000107397,0.0003575936,0.0001491103,0.0001221602],"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":[0.0001685607,0.00009958923,0.005855046,0.00006784708,0.0001774949,0.000001622404,0.00004733689,0.00006791486,0.9856793,0.0008709194,0.0002894441,0.006674919],"study_design_scores_gemma":[0.004935707,0.000332584,0.03003354,0.00001848242,0.0003152118,0.00001278406,0.00008053076,0.003152137,0.8115793,0.0007310424,0.1482895,0.0005192176],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.974777,0.01665247,0.007088709,0.00007580267,0.0001667968,0.0005303368,0.0001934716,0.000005586309,0.0005097632],"genre_scores_gemma":[0.9962102,0.0008305121,0.002014848,0.0002519818,0.00004828311,0.0000503534,0.0001993782,0.00003548639,0.0003590115],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.1741,"threshold_uncertainty_score":0.7492388,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.005894984504491907,"score_gpt":0.2381376310939727,"score_spread":0.2322426465894808,"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."}}