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Article

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

Ophthalmic genetics - 1 Dec 2019

Menghini Moreno, Cehajic-Kapetanovic Jasmina, Yusuf Imran H, MacLaren Robert E

Abstract excerpt

Background: 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 correctable, particularly in genes that are too large to be encoded by AAV vectors. About 20% of Usher Type 1 cases are caused by mutations in...

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PMID: 31755791
DOI: 10.1080/13816810.2019.1692359

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 7 Sept 2026. Manifest publication-graph-cohort-2026-09-07.1.

Source receipt: pubmed, retrieved 7 Sept 2026.

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