{"id":"W2010429932","doi":"10.1371/journal.pone.0022951","title":"Analysis of the IDS Gene in 38 Patients with Hunter Syndrome: The c.879G>A (p.Gln293Gln) Synonymous Variation in a Female Create Exonic Splicing","year":2011,"lang":"en","type":"article","venue":"PLoS ONE","topic":"Lysosomal Storage Disorders Research","field":"Medicine","cited_by":57,"is_retracted":false,"has_abstract":true,"ca_institutions":"","funders":"Hospital for Sick Children; National Natural Science Foundation of China","keywords":"Mucopolysaccharidosis type II; Exon; Missense mutation; Hunter syndrome; Genetics; Biology; Point mutation; Gene; Mutation; Molecular biology; Silent mutation; Synonymous substitution; RNA splicing; Stop codon; Compound heterozygosity; Medicine; Disease; RNA; Internal medicine; Genome","routes":{"ca_aff":false,"ca_fund":true,"ca_venue":false,"about_ca":false,"invisible_to_affiliation_only":true},"retraction":null,"screen":null,"direct_labels":[],"prediction":{"model_version":"codex-gemma-dda1882f352a","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.000378536,0.0001456707,0.0004779758,0.0004324047,0.00005437733,0.00001350764,0.00026309,0.0000800548,0.0004660319],"category_scores_gemma":[0.0001772187,0.00008340758,0.00009346482,0.002090997,0.00009051328,0.0001130058,0.000115788,0.0002832951,0.00001498957],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.000191556,"about_ca_system_score_gemma":0.00008366705,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002369975,"about_ca_topic_score_gemma":0.001990006,"domain_scores_codex":[0.9981016,0.0001619234,0.0003680724,0.000288267,0.0007582742,0.0003218794],"domain_scores_gemma":[0.9989266,0.00007620014,0.0001421864,0.0006244311,0.0001750751,0.00005550498],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.000341364,0.002685442,0.9892224,0.00008922878,0.001112651,0.00003742269,0.003675319,0.0000447841,0.002612343,0.000009818667,0.00000111474,0.0001681116],"study_design_scores_gemma":[0.001646613,0.0003606226,0.9922938,0.0002802152,0.0009045101,0.00000268299,0.0002132257,0.001921208,0.002271119,0.00001181922,9.004015e-7,0.00009324694],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9978347,0.0001170645,0.00003260281,0.0001186989,0.00001001886,0.000947906,0.00001132928,0.00001243301,0.0009152646],"genre_scores_gemma":[0.9992383,0.0000279015,0.000231875,0.00007142177,0.000008602526,0.0001233651,0.0000173177,0.000025557,0.0002557005],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.003462093,"threshold_uncertainty_score":0.5102723,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.04061636875595312,"score_gpt":0.2351892114522771,"score_spread":0.194572842696324,"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."}}