{"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":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000105499,0.00007566717,0.0002114604,0.0002096937,0.00002412236,0.000001392663,0.0001271593,0.00005188424,0.0002402536],"category_scores_gemma":[0.000221174,0.00006707744,0.00006374241,0.0001740254,0.0002794034,0.00001806636,0.00008504615,0.0002391607,0.00006978436],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000002488347,"about_ca_system_score_gemma":0.0000457294,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.00003306401,"about_ca_topic_score_gemma":0.00001564068,"domain_scores_codex":[0.9991259,0.00004487088,0.0001790621,0.0001894111,0.0001527823,0.0003079741],"domain_scores_gemma":[0.9992113,0.0003507746,0.00003707525,0.0002564514,0.00002698848,0.0001173814],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.009771067,0.0009913327,0.543099,0.0003174764,0.0002159558,0.007642102,0.001087355,0.00001297512,0.3278805,0.003175772,0.001087375,0.104719],"study_design_scores_gemma":[0.0009853926,0.003293192,0.9809762,0.000008577568,0.00001682029,0.001608648,0.00002053709,0.00008177168,0.002647777,0.001200084,0.009094552,0.00006640417],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9597244,0.0002151083,0.0001714163,0.001206235,0.000096802,0.0001597467,0.000001377162,0.00002898589,0.03839588],"genre_scores_gemma":[0.9980225,0.0000490415,0.0004657107,0.0007958455,0.00003050396,0.000001391486,0.000006788486,0.00001591266,0.000612333],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.4378772,"threshold_uncertainty_score":0.2735339,"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."}}