Article

Splicing variants in MYRF cause partial loss of function in the retinal pigment epithelium

2025-04-25

Abstract excerpt

<h4>ABSTRACT</h4> Myelin Regulatory Factor (MYRF) regulates retinal pigment epithelial (RPE) development and variants in the C-terminus are linked to isolated nanophthalmos, while loss-of-function variants cause syndromic disease. To define the molecular mechanism of this discrepancy, in vitro and animal studies were performed on a pathogenic C-terminal variant (p.Gly1126fs30* or dG-MYRF). ARPE-19 cells transduc...

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Literature Corpus work: 95e85871-cac1-5813-953e-bb76d0d9fc16
DOI: 10.1101/2025.04.21.649840

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