{"id":"W2587382015","doi":"10.1002/mgg3.275","title":"Single‐nucleotide substitution T to A in the polypyrimidine stretch at the splice acceptor site of intron 9 causes exon 10 skipping in the <i><scp>ACAT</scp>1</i> gene","year":2017,"lang":"en","type":"article","venue":"Molecular Genetics & Genomic Medicine","topic":"RNA Research and Splicing","field":"Biochemistry, Genetics and Molecular Biology","cited_by":6,"is_retracted":false,"has_abstract":true,"ca_institutions":"Memorial University of Newfoundland","funders":"Ministry of Health, Labour and Welfare; Ministry of Education, Culture, Sports, Science and Technology; Japan Agency for Medical Research and Development","keywords":"Minigene; Exon skipping; Exon; RNA splicing; Polypyrimidine tract; Genetics; Intron; Splice site mutation; Biology; Exon trapping; Molecular biology; Frameshift mutation; Alternative splicing; 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":[0.0001043674,0.000556499,0.0002939689,0.0002889542,0.0002875668,0.0001821997,0.0003293231,0.0006253786,0.001335835],"category_scores_gemma":[0.0002747364,0.0001837064,0.0006114487,0.0002227636,0.000486824,0.0000653821,0.0001653794,0.0006564073,0.0006598249],"about_ca_system_candidate":false,"about_ca_system_consensus":false,"about_ca_system_score_codex":0.0003100076,"about_ca_system_score_gemma":0.0002325345,"about_ca_topic_candidate":false,"about_ca_topic_consensus":false,"about_ca_topic_score_codex":0.001333482,"about_ca_topic_score_gemma":0.00135254,"domain_scores_codex":[0.9998505,0.00002421468,0.00002647375,0.00004493092,0.00002804014,0.00002582117],"domain_scores_gemma":[0.9996332,0.0001525275,0.00009264387,0.0000297515,0.00001260799,0.00007929535],"domain_codex":null,"domain_gemma":null,"domain_candidate":null,"domain_consensus":null,"study_design_codex":"bench_or_experimental","study_design_gemma":"observational","study_design_scores_codex":[0.0002699936,0.00008820031,0.002577253,0.0000719408,0.00002891167,0.02187543,0.00007543142,0.000168914,0.972769,0.0001250119,0.0002026338,0.001747376],"study_design_scores_gemma":[0.0001637576,0.001604787,0.06017916,0.00004209295,0.0002039968,0.1396492,0.0001804437,0.00283997,0.7907619,0.0002080465,0.004124028,0.00004259262],"study_design_candidate":"observational","study_design_consensus":null,"genre_codex":"empirical","genre_gemma":"empirical","genre_scores_codex":[0.997936,0.0001081496,0.0009390496,0.00009003458,0.00004519945,0.0000261356,0.000328621,0.00007608,0.0004507898],"genre_scores_gemma":[0.9974158,0.0001050892,0.001419968,0.00008707905,0.00002072772,0.000017362,0.0004357513,0.00003374282,0.0004645122],"genre_candidate":"empirical","genre_consensus":"empirical","teacher_disagreement_score":0.001335835,"threshold_uncertainty_score":0.004468799,"prediction_status":"machine_predicted_unvalidated"},"machine_scores":{"provisional":true,"baseline":true,"maturity_gate_passed":false,"score_opus":0.02171668082124416,"score_gpt":0.2864534850177333,"score_spread":0.2647368041964891,"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."}}