{"id":"W2853295568","doi":"10.1002/1873-3468.13190","title":"Biochemical and structural insights into an allelic variant causing the lysosomal storage disorder – aspartylglucosaminuria","year":2018,"lang":"en","type":"article","venue":"FEBS Letters","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":3,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"National Institute of Biomedical Imaging and Bioengineering; National Institute of Diabetes and Digestive and Kidney Diseases; National Institute of General Medical Sciences; National Institutes of Health","keywords":"Allele; Genetics; Chemistry; Biology; Gene","routes":{"ca_aff":false,"ca_fund":false,"ca_venue":false,"about_ca":true,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00006568601,0.0005421069,0.0002030313,0.000199557,0.0002747057,0.0003965559,0.0003501032,0.0005968238,0.0007891437],"category_scores_gemma":[0.0001653143,0.0001634257,0.0004137042,0.0003379036,0.0002702822,0.0001241058,0.0002021248,0.0005271608,0.0002770036],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006087848,"about_ca_system_score_gemma":0.0004736897,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.01372249,"about_ca_topic_score_gemma":0.01680246,"domain_scores_codex":[0.9999326,0.00000627472,0.000005840355,0.00001423486,0.00002814748,0.00001285295],"domain_scores_gemma":[0.999944,0.000006792773,0.00001863316,0.000004405009,0.000006334682,0.00001992908],"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":[0.0003489701,0.00006639352,0.004342483,0.00006976919,0.00005772596,0.01223701,0.0001694742,0.001292844,0.976459,0.0008504505,0.0003479813,0.003757923],"study_design_scores_gemma":[0.0001997864,0.0009437902,0.1213397,0.00004629744,0.0004209109,0.0764126,0.001154358,0.01313458,0.7612252,0.001771544,0.02317178,0.0001795035],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9968472,0.0004141691,0.001156484,0.0001210407,0.00002874218,0.000007220116,0.0003434932,0.00003439601,0.001047198],"genre_scores_gemma":[0.9956767,0.0003211693,0.002512551,0.0000543226,0.00001075653,0.000002563338,0.0006786564,0.00001398262,0.0007293054],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.01372249,"threshold_uncertainty_score":0.02728522,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.01557873903180091,"score_gpt":0.2820637195145029,"score_spread":0.266484980482702,"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."}}