A novel splice-site variant in CDH23 in a patient with Usher syndrome type 1

<br><strong>Background: </strong>Gene editing has shown huge potential in correcting aberrant splicing and Cas13 has been identified as being particularly suitable for targeting RNA. It has therefore become increasingly important to highlight new splice site mutations that may be c...

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Bibliographic Details
Main Authors: Menghini, M, Cehajic-Kapetanovic, J, Yusuf, IH, MacLaren, RE
Format: Journal article
Language:English
Published: Taylor & Francis 2019