{"id":"W1984920431","doi":"10.1002/humu.20986","title":"Sanfilippo syndrome type C: mutation spectrum in the heparan sulfate acetyl-CoA: α-glucosaminide N-acetyltransferase (<i>HGSNAT</i>) gene","year":2009,"lang":"en","type":"review","venue":"Human Mutation","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":63,"is_retracted":false,"has_abstract":true,"ca_institutions":"McGill University; Université Laval; Université de Montréal","funders":"March of Dimes Foundation","keywords":"Biology; Heparan sulfate; Nonsense mutation; Missense mutation; Molecular biology; Mutation; Biochemistry; Genetics; Gene","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":[0.001085472,0.000707665,0.001745194,0.0008385482,0.0002733693,0.0001196375,0.000504801,0.0005075151,0.0003733024],"category_scores_gemma":[0.000210146,0.0005435847,0.0005003588,0.001707,0.0001555289,0.0002361416,0.00003513689,0.001259321,0.0005277786],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0006479693,"about_ca_system_score_gemma":0.000547214,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002755733,"about_ca_topic_score_gemma":0.0004153929,"domain_scores_codex":[0.9951918,0.0008013451,0.001222833,0.0008770729,0.001151756,0.000755253],"domain_scores_gemma":[0.9982653,0.0002542167,0.0003207414,0.0008274818,0.0001560466,0.0001762524],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"design_other","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0003899906,0.001611075,0.000103716,0.02173558,0.0006667273,0.01571046,0.003831559,0.00006911858,0.0003251132,0.0009220365,0.001339036,0.9532956],"study_design_scores_gemma":[0.02032075,0.01500661,0.02418051,0.03293657,0.008989187,0.03805291,0.001913156,0.0004287409,0.0004966096,0.005479061,0.846339,0.005856839],"study_design_candidate":"design_other","study_design_consensus":null,"genre_codex":"review","genre_gemma":"review","genre_scores_codex":[0.06979967,0.9231042,0.00008429003,0.0004387824,0.0001886612,0.004490314,0.00004784486,0.0001424778,0.001703785],"genre_scores_gemma":[0.08047184,0.9129437,0.0001484524,0.0002725866,0.000275947,0.000296682,0.004799473,0.0001577302,0.0006336407],"genre_candidate":"review","genre_consensus":"review","teacher_disagreement_score":0.9474387,"threshold_uncertainty_score":0.9997016,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.07075709467490543,"score_gpt":0.3812859693168271,"score_spread":0.3105288746419217,"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."}}