Functional Evaluation of Splicing for Variants of Uncertain Significance in Patients with Inherited Retinal Diseases

Inherited retinal diseases (IRD) comprise a heterogeneous set of clinical and genetic disorders that lead to blindness. Given the emerging opportunities in precision medicine and gene therapy, it has become increasingly important to determine whether DNA variants with uncertain significance (VUS) ar...

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Detalles Bibliográficos
Autores principales: Mauro-Herrera, Margarita, Chiang, John, Radojevic, Bojana, Bennett, Lea D
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303747/
https://www.ncbi.nlm.nih.gov/pubmed/34209753
http://dx.doi.org/10.3390/genes12070993

Internet

https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8303747/
https://www.ncbi.nlm.nih.gov/pubmed/34209753
http://dx.doi.org/10.3390/genes12070993

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