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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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Detalhes bibliográficos
Publicado no:Genes (Basel)
Main Authors: Mauro-Herrera, Margarita, Chiang, John, Radojevic, Bojana, Bennett, Lea D
Formato: Artigo
Idioma:Inglês
Publicado em: MDPI 2021
Assuntos:
Acesso em linha:https://ncbi.nlm.nih.gov/pmc/articles/PMC8303747/
https://ncbi.nlm.nih.gov/pubmed/34209753
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.3390/genes12070993
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