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Letters to the Journal

Novel heterozygous mutation in YAP1 in a family with isolated ocular colobomas

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References

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  • Williamson KA, Rainger J, Floyd JA, et al. Heterozygous loss-of-function mutations in YAP1 cause both isolated and syndromic optic fissure closure defects. Am J Hum Genet 2014;94:295–302.
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  • Sudol M, Bork P, Einbond A, et al. Characterization of the mammalian YAP (Yes-associated protein) gene and its role in defining a novel protein module, the WW domain. J Biol Chem 1995;270:14733–14741.
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