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  • It is thought that while nonsense mutations result inhaploinsuYciency due to nonsense mediated decay (NMD),missense mutations may aVect the ability of Pax6 to bind tospeciWc targets thereby leading to diVering phenotypes(Azuma et al. 2003; Chao et al. (2003; Hanson (2003).Additionally, PAX6 is a key gene in a contiguous genedeletion syndrome termed ???WAGR???, so named for ???Wilm???stumor, anirid
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