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Article

Minigene-Based Splice Assays Reveal the Effect of Non-Canonical Splice Site Variants in USH2A.

International journal of molecular sciences - 1 Nov 2022

Reurink Janine, Oostrik Jaap, Aben Marco, Ramos Mariana Guimarães, van Berkel Emma, Ołdak Monika, van Wijk Erwin, Kremer Hannie, Roosing Susanne, Cremers Frans P M

Abstract excerpt

Non-canonical splice site variants are increasingly recognized as a relevant cause of the USH2A-associated diseases, non-syndromic autosomal recessive retinitis pigmentosa and Usher syndrome type 2. Many non-canonical splice site variants have been reported in public databases, but an effect on pre-mRNA splicing has only been functionally verified for a subset of these variants. In this study, we aimed to extend...

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Identifiers

PMID: 36362125
DOI: 10.3390/ijms232113343
PMCID: PMC9654511

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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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