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Article

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

Scientific reports - 11 Aug 2017

Holt R, Ceroni F, Bax D A, Broadgate S, Diaz D Gold, Santos C, Gerrelli D, Ragge N K

Abstract excerpt

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 undiagnosed UK patients with developmental eye disorders, including anophthalmia, microphthalmia and coloboma. We...

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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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Source

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Identifiers

PMID: 28801591
DOI: 10.1038/s41598-017-08397-w
PMCID: PMC5554234

Genes

YAP1

Provenance

PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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