Using Computational Approaches to Enhance the Interpretation of Missense Variants in the PAX6 Gene

Medicine, Ophthalmology, Life Sciences, Genetics,
PAX6 gene   missense variants   computational approaches   eye development   loss-of-function   clinical settings  

Improving the Interpretation of PAX6 Gene Missense Variants Through Computational Methods Background The PAX6 gene is a highly conserved transcription factor that plays a crucial role in eye development. Heterozygous loss-of-function variants in PAX6 can lead to a range of ophthalmic disorders, including aniridia. However, many PAX6 gene missense v...