Article

Contribution of non-coding mutations to <i>RPGRIP1</i> -mediated inherited retinal degeneration

2017-10-30

Abstract excerpt

<h4>Purpose</h4> With the advent of gene therapies for inherited retinal degenerations (IRDs), genetic diagnostics will have an increasing role in clinical decision-making. Yet the genetic cause of disease cannot be identified using exon-based sequencing for a significant portion of patients. We hypothesized that non-coding mutations contribute significantly to the genetic causality of IRDs and evaluated patients...

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Literature Corpus work: cc5c09a9-5377-55c3-937a-0e46b1f9b336
DOI: 10.1101/211292

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