The GGC repeat expansion in NOTCH2NLC is associated with oculopharyngodistal myopathy type 3.

Yu J, Deng J, Guo X, Shan J, Luan X, Cao L, Zhao J, Yu M, Zhang W, Lv H, Xie Z, Meng L, Zheng Y, Zhao Y, Gang Q, Wang Q, Liu J, Zhu M, Zhou B, Li P, Liu Y, Wang Y, Yan C, Hong D, Yuan Y, Wang Z.