Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

Scrutinizing pathogenicity of the USH2A c.2276 G > T; p.(Cys759Phe) variant

Abstract The USH2A variant c.2276 G > T (p.(Cys759Phe)) has been described by many authors as a frequent cause of autosomal recessive retinitis pigmentosa (arRP). However, this is in contrast with the description of two asymptomatic individuals homozygous for this variant. We therefore assessed p...

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Main Authors: Janine Reurink, Erik de Vrieze, Catherina H. Z. Li, Emma van Berkel, Sanne Broekman, Marco Aben, Theo Peters, Jaap Oostrik, Kornelia Neveling, Hanka Venselaar, Mariana Guimarães Ramos, Christian Gilissen, Galuh D. N. Astuti, Jordi Corominas Galbany, Janneke J. C. van Lith-Verhoeven, Charlotte W. Ockeloen, Lonneke Haer-Wigman, Carel B. Hoyng, Frans P. M. Cremers, Hannie Kremer, Susanne Roosing, Erwin van Wijk
Format: Article
Language:English
Published: Nature Portfolio 2022-06-01
Series:npj Genomic Medicine
Online Access:https://doi.org/10.1038/s41525-022-00306-z

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https://doi.org/10.1038/s41525-022-00306-z

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