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Genome-wide Detection of Human Variants That Disrupt Intronic Branchpoints

Peng Zhang,Quentin Philippot,Weicheng Ren,Wei-Te Lei,Juan Li,Peter D. Stenson,Pere Soler Palacin,Roger Colobran,Bertrand Boisson,Shen-Ying Zhang,Anne Puel,Qiang Pan-Hammarstrom,Qian Zhang,David N. Cooper,Laurent Abel,Jean-Laurent Casanova

Proceedings of the National Academy of Sciences（2022）

Cited 16|Views45

Key words

branchpoint,splicing,intronic variant,disease genetics,software

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