Characterizing variants of unknown significance in rhodopsin: A functional genomics approach

Characterizing the pathogenicity of DNA sequence variants of unknown significance (VUS) is a major bottleneck in human genetics, and is increasingly important in determining which patients with inherited retinal diseases could benefit from gene therapy. A library of 210 rhodopsin (RHO) variants from...

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Detalles Bibliográficos
Autores principales: Wan, Aliete, Place, Emily, Pierce, Eric A., Comander, Jason
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2019
Materias:
Research Articles
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027811/
https://www.ncbi.nlm.nih.gov/pubmed/30977563
http://dx.doi.org/10.1002/humu.23762

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7027811/
https://www.ncbi.nlm.nih.gov/pubmed/30977563
http://dx.doi.org/10.1002/humu.23762

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