frameshift mutation

  • Novel truncating variants in CTNNB1 cause familial exudative vitreoretinopathy
    Yunqi He, Mu Yang, Rulian Zhao, Li Peng, Erkuan Dai, Lulin Huang, Peiquan Zhao, Shujin Li, Zhenglin Yang
  • Variable skeletal phenotypes associated with biallelic variants in PRKG2
    Alistair T Pagnamenta, Francisca Diaz-Gonzalez, Benito Banos-Pinero, Matteo P Ferla, Mehran B Toosi, Alistair D Calder, Ehsan G Karimiani, Mohammad Doosti, Andrew Wainwright, Paul Wordsworth, Kathryn Bailey, Katarina Ejeskär, Tracy Lester, Reza Maroofian, Karen E Heath, Homa Tajsharghi, Deborah Shears, Jenny C Taylor