Truncated FRMD7 proteins in congenital Nystagmus: novel frameshift mutations and proteasomal pathway implications

Idiopathic congenital nystagmus (ICN) manifests as involuntary and periodic eye movements. To identify the genetic defect associated with X-linked ICN, Whole Exome Sequencing (WES) was conducted in two affecte...

Source: BMC Medical Genomics - January 26, 2024 Category: Genetics & Stem Cells Authors: Yuqing Su, Juntao Zhang, Jiahui Gao, Guoqing Ding, Heng Jiang, Yang Liu, Yulei Li and Guohua Yang Tags: Research Source Type: research