A birth of bipartite exon by intragenic deletion.
Kandai NozuKazumoto IijimaToru IgarashiShiro YamadaJana KralovicovaYoshimi NozuTomohiko YamamuraShogo MinamikawaIchiro MoriokaTakeshi NinchojiHiroshi KaitoKoichi NakanishiVorechovsky IPublished in: Molecular genetics & genomic medicine (2017)
These results expand the repertoire of mutational mechanisms that alter RNA processing in genetic disease and illustrate the extraordinary versatility of transposed elements in shaping the new exon-intron structure and the phenotypic variability.