{"id":"W2554497099","doi":"10.1182/blood.v118.21.3931.3931","title":"Clinically Significant Aberrant HAS1Vb Splicing of the Hyaluronan Synthase 1 Gene (HAS1) Requires a Combination of Mutations and Deletions in Introns 3 and 4 of HAS1 Minigene,","year":2011,"lang":"en","type":"article","venue":"Blood","topic":"Proteoglycans and glycosaminoglycans research","field":"Biochemistry, Genetics and Molecular Biology","cited_by":0,"is_retracted":false,"has_abstract":true,"ca_institutions":"University of Alberta","funders":"","keywords":"Minigene; Intron; Exon; RNA splicing; Biology; Polypyrimidine tract; Splice site mutation; Alternative splicing; Exon skipping; Molecular biology; Genetics; Exonic splicing enhancer; Gene; RNA","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":[0.000134735,0.0004111055,0.0001991248,0.0002446701,0.0001356373,0.0002036496,0.0001443231,0.0003115373,0.001216507],"category_scores_gemma":[0.000152527,0.000156791,0.0002353164,0.0001282124,0.0003677555,0.00008501201,0.0001382723,0.0003180629,0.0004183057],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0002123151,"about_ca_system_score_gemma":0.0001156332,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.0002303477,"about_ca_topic_score_gemma":0.0003167925,"domain_scores_codex":[0.9998741,0.00001932933,0.00001534931,0.00003868004,0.00003354579,0.00001902485],"domain_scores_gemma":[0.9998448,0.00005439753,0.00005462205,0.00001063659,0.000006854633,0.00002862249],"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":[0.00007169501,0.00001569739,0.0005852586,0.00001450874,0.000004826261,0.0002604474,0.000008095534,0.00002767576,0.9983834,0.00003767382,0.00001930821,0.0005713324],"study_design_scores_gemma":[0.00004759177,0.0009288676,0.03877404,0.00001523213,0.00005564334,0.01048478,0.00003916361,0.001529403,0.9442722,0.00008534733,0.003756778,0.00001092842],"study_design_candidate":"bench_or_experimental","study_design_consensus":"bench_or_experimental","genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.9981767,0.0004538468,0.0007595135,0.00002995926,0.0000143473,0.00001590475,0.000187244,0.00003001445,0.0003325082],"genre_scores_gemma":[0.9963566,0.0003012842,0.001327263,0.00003127327,0.00001365786,0.00002177312,0.0009694532,0.0000188568,0.0009598301],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001216507,"threshold_uncertainty_score":0.004069626,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02505051427665622,"score_gpt":0.2675932152711312,"score_spread":0.242542700994475,"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."}}