{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000107499,0.001258169,0.0004372562,0.001178791,0.0004916802,0.0002971857,0.0002584281,0.0006967849,0.001928139],"category_scores_gemma":[0.0002285614,0.0001466139,0.0002803376,0.0007149881,0.0004973803,0.0001565468,0.0003866144,0.000234018,0.0003746416],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003440751,"about_ca_system_score_gemma":0.0002870034,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002078301,"about_ca_topic_score_gemma":0.001475412,"domain_scores_codex":[0.9998899,0.000008749028,0.00001124354,0.00003498507,0.0000299276,0.00002531058],"domain_scores_gemma":[0.9998875,0.00002473712,0.00002735595,0.00000285435,0.00000894601,0.00004851869],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"not_applicable","study_design_scores_codex":[0.0008102353,0.0001556982,0.1965345,0.0003337837,0.0002019935,0.6354434,0.00170128,0.000769339,0.1256339,0.001435634,0.002764331,0.03421599],"study_design_scores_gemma":[0.00007630909,0.0002082335,0.2605144,0.0001149923,0.0001941707,0.7156861,0.0004224715,0.0006340478,0.01326763,0.000612107,0.008215286,0.00005420142],"study_design_candidate":"not_applicable","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"review","genre_scores_codex":[0.9904496,0.002172181,0.0004948229,0.0001821802,0.00001793078,0.00003055998,0.000279917,0.00005465265,0.006318036],"genre_scores_gemma":[0.9972302,0.001100428,0.0004130448,0.00009549144,0.00005582613,0.00001296088,0.0002094999,0.00001563294,0.0008668478],"genre_candidate":"review","genre_consensus":null,"teacher_disagreement_score":0.002078301,"threshold_uncertainty_score":0.006450295,"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."}}