{"id":"W2127691826","doi":"10.1001/archneur.64.11.1629","title":"Sanfilippo Syndrome Type D","year":2007,"lang":"en","type":"article","venue":"Archives of Neurology","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":32,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"","keywords":"Proband; Frameshift mutation; Nonsense mutation; Mutation; Medicine; Genetics; Compound heterozygosity; Genetic counseling; Pediatrics; Biology; Gene; Missense mutation","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":[0.0002117297,0.001852513,0.0005686599,0.001420707,0.001236298,0.0005579867,0.0004696872,0.001043813,0.008056186],"category_scores_gemma":[0.0008238142,0.0002461826,0.0003133125,0.001211147,0.0007765738,0.0003659035,0.0006093364,0.0006020447,0.001048005],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000607622,"about_ca_system_score_gemma":0.0007242668,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002370502,"about_ca_topic_score_gemma":0.002250937,"domain_scores_codex":[0.999795,0.00001582966,0.00001738336,0.00006952933,0.00004277625,0.00005950868],"domain_scores_gemma":[0.9995716,0.000127813,0.0001240621,0.0000199299,0.00003069279,0.0001258547],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"case_report","study_design_gemma":"case_report","study_design_scores_codex":[0.0002768982,0.0001332935,0.09828037,0.0002378055,0.0001012316,0.8789654,0.0004155025,0.0001944285,0.005545521,0.001672048,0.00292015,0.01125734],"study_design_scores_gemma":[0.00006107042,0.00006111231,0.0511543,0.00007189393,0.00007742203,0.9348986,0.0001278665,0.0001709605,0.0017324,0.0006970036,0.01092691,0.00002049938],"study_design_candidate":"case_report","study_design_consensus":"case_report","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9446416,0.003906164,0.0009942121,0.001338211,0.0002310308,0.0001262752,0.001252387,0.0002356459,0.04727452],"genre_scores_gemma":[0.9923227,0.001651827,0.0006144501,0.0003960091,0.0002119195,0.00006156102,0.000446318,0.00002256188,0.004272675],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.008056186,"threshold_uncertainty_score":0.02695066,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02085041807471428,"score_gpt":0.3057820289900053,"score_spread":0.2849316109152911,"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."}}