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

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 of 258 un...

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Detalles Bibliográficos
Autores principales:	Holt, R., Ceroni, F., Bax, D. A., Broadgate, S., Diaz, D. Gold, Santos, C., Gerrelli, D., Ragge, N. K.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Nature Publishing Group UK 2017
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5554234/ https://www.ncbi.nlm.nih.gov/pubmed/28801591 http://dx.doi.org/10.1038/s41598-017-08397-w

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