{"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":"metacan-v3-hybrid-931329e0061c","candidate_categories":[],"consensus_categories":[],"category_scores_codex":[0.0001387255,0.0006890699,0.0003366958,0.00101286,0.0006822798,0.0002775267,0.0002467257,0.0005094844,0.001516691],"category_scores_gemma":[0.0005925394,0.0002664151,0.0003223836,0.0005036113,0.0004543003,0.0001214322,0.0002698651,0.0002484771,0.0002448243],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002920648,"about_ca_system_score_gemma":0.0001945523,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.002422778,"about_ca_topic_score_gemma":0.001751454,"domain_scores_codex":[0.9998096,0.00001594372,0.00002527114,0.00007144825,0.00004377159,0.00003408044],"domain_scores_gemma":[0.9998062,0.00004366488,0.00005447517,0.00001282004,0.00002367855,0.00005916575],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"observational","study_design_gemma":"observational","study_design_scores_codex":[0.0006952394,0.000157869,0.8245201,0.00004388646,0.0000856507,0.09887203,0.002217119,0.0002751282,0.06563685,0.0001448078,0.0002133789,0.007137987],"study_design_scores_gemma":[0.00009214385,0.0009800442,0.8818445,0.00001717452,0.0001406911,0.1025835,0.0008342425,0.0008865137,0.01103881,0.0001331421,0.001413274,0.00003594525],"study_design_candidate":"observational","study_design_consensus":"observational","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9997692,0.0000281653,0.00004631126,0.000007009205,0.00000223319,0.000004333163,0.00003956183,0.000001825446,0.0001013098],"genre_scores_gemma":[0.9995924,0.00002949608,0.0001143879,0.00002162543,0.000006294643,0.000005989248,0.00007598378,0.000003004775,0.0001509131],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002422778,"threshold_uncertainty_score":0.005073845,"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."}}