{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0002629571,0.0007941255,0.0002735777,0.001568189,0.0003096995,0.0004112175,0.0004847509,0.0007909449,0.001493225],"category_scores_gemma":[0.0008408762,0.0002147663,0.0002665345,0.0005942635,0.000557975,0.0003559193,0.0003988443,0.000557169,0.0003476523],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003372421,"about_ca_system_score_gemma":0.0002022711,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001419936,"about_ca_topic_score_gemma":0.001027504,"domain_scores_codex":[0.9997035,0.00003263289,0.00005085787,0.0000795339,0.00008081226,0.00005261308],"domain_scores_gemma":[0.9992811,0.0001392721,0.000199952,0.00005022525,0.0001124559,0.0002169192],"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":[0.001430655,0.00006581542,0.1144537,0.0001877272,0.00009609754,0.04446147,0.0003027934,0.0001483006,0.8288458,0.0004187499,0.0002395576,0.00934929],"study_design_scores_gemma":[0.00004510507,0.0007185002,0.2765194,0.00008591202,0.0002327306,0.1848085,0.0004896098,0.00278479,0.5286365,0.0008223313,0.004819871,0.00003683985],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9947823,0.001205924,0.001953654,0.0001339451,0.00003640863,0.00001428174,0.0002716137,0.0000596845,0.001542257],"genre_scores_gemma":[0.9974311,0.0003310156,0.001374857,0.00004606462,0.000008380115,0.000004759353,0.0002483945,0.00001704793,0.000538379],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001568189,"threshold_uncertainty_score":0.004995286,"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."}}