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

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-...

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Detalles Bibliográficos
Autores principales:	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.
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	MDPI 2022
Materias:	Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9654511/ https://www.ncbi.nlm.nih.gov/pubmed/36362125 http://dx.doi.org/10.3390/ijms232113343

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