{"id":"W2530979311","doi":"10.1182/blood.v110.11.2497.2497","title":"Genetic Variations in Genomic HAS1 Direct Aberrant Pre-mRNA Splicing That Generates the Prognostically Significant HAS1Vb Intronic Splice Variant.","year":2007,"lang":"en","type":"article","venue":"Blood","topic":"Glycosylation and Glycoproteins Research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Minigene; Exon; Intron; Biology; RNA splicing; Exonic splicing enhancer; Genetics; Splice site mutation; Molecular biology; Point mutation; Polypyrimidine tract; Exon trapping; Alternative splicing; Mutation; RNA; 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":[0.0001296046,0.0003168218,0.0001525842,0.0003108647,0.0001382082,0.0002343035,0.0001759047,0.0002880207,0.002463981],"category_scores_gemma":[0.000314334,0.0001328918,0.000217142,0.0002169714,0.0002803683,0.00007194041,0.0001237331,0.0003104572,0.0005162123],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002619395,"about_ca_system_score_gemma":0.0001015749,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.000402566,"about_ca_topic_score_gemma":0.00072713,"domain_scores_codex":[0.9998848,0.00002709778,0.00001085435,0.00002835082,0.00002925189,0.0000196348],"domain_scores_gemma":[0.9997675,0.00009543777,0.00007372749,0.0000168163,0.0000145278,0.00003192841],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"bench_or_experimental","study_design_scores_codex":[0.0004916366,0.00004847455,0.01656748,0.00004995953,0.00002882441,0.001808504,0.00004837466,0.0002115568,0.9764938,0.0002955315,0.0001629616,0.003792874],"study_design_scores_gemma":[0.00009279719,0.001032158,0.2768539,0.00005952487,0.0001245634,0.01854241,0.000133006,0.003575916,0.6926449,0.0004158051,0.006497705,0.00002722278],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9983988,0.0002620113,0.0005220405,0.00003266343,0.00001213917,0.000009763256,0.0001950481,0.00002082534,0.0005466118],"genre_scores_gemma":[0.998661,0.00008186761,0.0004403629,0.00001789336,0.000006854874,0.0000048345,0.0003051825,0.00001021224,0.0004717457],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.002463981,"threshold_uncertainty_score":0.008242786,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.0122204840246282,"score_gpt":0.2534402150431102,"score_spread":0.241219731018482,"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."}}