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Exonic Variants that Affect Splicing - An Opportunity for "Hidden" Mutations Causing Inherited Retinal Diseases.

Advances in experimental medicine and biology - 1 Jan 2023

Sundaresan Yogapriya, Banin Eyal, Sharon Dror

Abstract excerpt

Inherited retinal diseases (IRDs) are an extremely diverse group of ocular disorders characterized by progressive loss of photoreceptors leading to blindness. So far, pathogenic variants in over 300 genes are reported to structurally and functionally affect the retina resulting in visual impairment. Around 15% of all IRD mutations are known to affect an essential regulatory mechanism, pre-mRNA splicing, which...

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PMID: 37440032
DOI: 10.1007/978-3-031-27681-1_27

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