New frameshift in PAX6 and missense mutation in EYA1 gene found by Whole Exome Sequencing associated with severe eye impairments in an Iranian Family
1.1. Introduction: Previous studies have examined the impacts of PAX6 mutations on a wide range of eye impairments. Because of the PAX6 protein’s binding functions, alterations in its structure may prevent it from correctly connecting with the DNA molecule. 1.2. Materials and Methods: Whole Exome Sequencing [WES] was used to perform in vitro analysis on […]