Article

Pathogenic variants in Crx have distinct cis-regulatory effects on enhancers and silencers in photoreceptors

2023-05-27

Abstract excerpt

Dozens of variants in the photoreceptor-specific transcription factor (TF) CRX are linked with human blinding diseases that vary in their severity and age of onset. It is unclear how different variants in this single TF alter its function in ways that lead to a range of phenotypes. We examined the effects of human disease-causing variants on CRX cis -regulatory function by deploying massively parallel reporter as...

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Literature Corpus work: 1ad1debc-0b60-5bb4-8167-77d62659f79b
DOI: 10.1101/2023.05.27.542576

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