The splicing effect of variants at branchpoint elements in cancer genes.

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第一作者： Daffodil M,Canson

第一单位： Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia.

作者： Daffodil M,Canson ^[1] ; Troy,Dumenil ^[2] ; Michael T,Parsons ^[3] ; Tracy A,O'Mara ^[3] ; Aimee L,Davidson ^[1] ; Satomi,Okano ^[4] ; Bethany,Signal ^[5] ; Tim R,Mercer ^[6] ; Dylan M,Glubb ^[3] ; Amanda B,Spurdle ^[7]

作者单位： Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia. ^[1] Immunology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. ^[2] Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. ^[3] Statistics, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia. ^[4] Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia. ^[5] Genomics and Epigenetics, Garvan Institute of Medical Research, Sydney, New South Wales, Australia; Australian Institute of Bioengineering and Nanotechnology, The University of Queensland, Brisbane, Queensland, Australia. ^[6] Genetics and Computational Biology, QIMR Berghofer Medical Research Institute, Brisbane, Queensland, Australia; Faculty of Medicine, The University of Queensland, Brisbane, Queensland, Australia. Electronic address: Amanda.Spurdle@qimrberghofer.edu.au. ^[7]

关键词 Branchpoint Hereditary cancer Minigene assay Mismatch repair gene Splicing

主题词基因, 肿瘤(Genes, Neoplasm);人类(Humans);内含子(Introns);肿瘤(Neoplasms);RNA剪接(RNA Splicing)

DOI 10.1016/j.gim.2021.09.020

PMID 34906448

发布时间 2023-01-07

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准确一般字义偏差语意偏离译文作用小提交