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  1. Article

    Open Access

    PDIVAS: Pathogenicity predictor for Deep-Intronic Variants causing Aberrant Splicing

    Deep-intronic variants that alter RNA splicing were ineffectively evaluated in the search for the cause of genetic diseases. Determination of such pathogenic variants from a vast number of deep-intronic varian...

    Ryo Kurosawa, Kei Iida, Masahiko Ajiro, Tomonari Awaya, Mamiko Yamada in BMC Genomics (2023)

  2. Article

    Open Access

    Vemurafenib-resistant BRAF selects alternative branch points different from its wild-type BRAF in intron 8 for RNA splicing

    One mechanism of resistance of the melanoma-associated BRAF kinase to its small molecule inhibitor vemurafenib is by point mutations in its intron 8 resulting in exons 4–8 skip**. In this report, we carried ...

    Masahiko Ajiro, Zhi-Ming Zheng in Cell & Bioscience (2015)