{"id":"W2008667052","doi":"10.1016/s0888-7543(02)00014-9","title":"Genomic basis of mucopolysaccharidosis type IIID (MIM 252940) revealed by sequencing of GNS encoding N-acetylglucosamine-6-sulfatase","year":2003,"lang":"en","type":"article","venue":"Genomics","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":42,"is_retracted":false,"has_abstract":false,"ca_institutions":"Robarts Clinical Trials","funders":"","keywords":"Biology; Mucopolysaccharidosis; genomic DNA; Nonsense mutation; Genetics; Exon; Sulfatase; Molecular biology; Heparan sulfate; Mutation; Gene; Biochemistry; Enzyme; Missense mutation","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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.00009298521,0.0004800393,0.0002552385,0.0006163509,0.0002920225,0.0003094421,0.0003091885,0.0005766639,0.00179887],"category_scores_gemma":[0.0003725566,0.0002045276,0.0003346284,0.0003860277,0.0004115223,0.0001168402,0.000290434,0.0004363639,0.0004420141],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002526206,"about_ca_system_score_gemma":0.0002427125,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00143311,"about_ca_topic_score_gemma":0.0010544,"domain_scores_codex":[0.9999094,0.00001644378,0.00001246043,0.000028193,0.00001692084,0.00001654228],"domain_scores_gemma":[0.9997981,0.00005901256,0.00005708609,0.0000166168,0.00001340047,0.00005579076],"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":[0.001853804,0.0001588573,0.01222379,0.0001220585,0.0001034421,0.0248605,0.0002075531,0.0009456082,0.9481563,0.001982091,0.000619486,0.008766636],"study_design_scores_gemma":[0.0004150178,0.001789378,0.5674285,0.0001912213,0.0009243169,0.09762385,0.001010586,0.003522978,0.2986571,0.005616251,0.02272177,0.00009905031],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9939017,0.0007173002,0.001308522,0.0003865634,0.00004831529,0.00003349151,0.001346748,0.00004170257,0.002215611],"genre_scores_gemma":[0.9968632,0.0003557377,0.0009047266,0.0001386377,0.00004230297,0.00001531839,0.001098798,0.00001181782,0.000569351],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.00179887,"threshold_uncertainty_score":0.006017804,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.03429141152082146,"score_gpt":0.2850395608286508,"score_spread":0.2507481493078293,"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."}}