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The prevalent <i>NR2E3</i> c.932G>A mutation induces aberrant splicing that can be rescued using splice-shifting antisense oligonucleotides

2024-05-03

Abstract excerpt

Mutations in NR2E3 have been implicated in several progressive retinal disease phenotypes such as enhanced S-cone syndrome, Goldmann-Favre syndrome and retinitis pigmentosa. One of the most frequent mutations in NR2E3 is c.932G>A (p.R311Q), where pathogenicity is thought to stem from the resulting amino acid substitution. However, multiple studies that evaluated the effect of this substitution on the protein, did...

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Literature Corpus work
3f7d7efe-0178-51f6-9155-137370f00656
DOI
10.1101/2024.05.01.592034
Open publication

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The prevalent <i>NR2E3</i> c.932G>A mutation induces aberrant splicing that can be rescued using splice-shifting antisense oligonucleotidesDOI 10.1101/2024.05.01.592034
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