New variant and expression studies provide further insight into the genotype-phenotype correlation in YAP1-related developmental eye disorders

Abstract YAP1, which encodes the Yes-associated protein 1, is part of the Hippo pathway involved in development, growth, repair and homeostasis. Nonsense YAP1 mutations have been shown to co-segregate with autosomal dominantly inherited coloboma. Therefore, we screened YAP1 for variants in a cohort...

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Autores principales: R. Holt, F. Ceroni, D. A. Bax, S. Broadgate, D. Gold Diaz, C. Santos, D. Gerrelli, N. K. Ragge
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Acceso en línea:https://doaj.org/article/a311b793cca04d9788f831add14f8a0f
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