Novel Pathogenic Mutations Identified from Whole-Genome Sequencing in Unsolved Cases of Patients Affected with Inherited Retinal Diseases

Inherited retinal diseases (IRDs) are a diverse set of visual disorders that collectively represent a major cause of early-onset blindness. With the reduction in sequencing costs in recent years, whole-genome sequencing (WGS) is being used more frequently, particularly when targeted gene panels and...

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Detalles Bibliográficos
Autores principales: Hussain, Hafiz Muhammad Jafar, Wang, Meng, Huang, Austin, Schmidt, Ryan, Qian, Xinye, Yang, Paul, Marra, Molly, Li, Yumei, Pennesi, Mark E., Chen, Rui
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2023
Materias:
Article
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9956865/
https://www.ncbi.nlm.nih.gov/pubmed/36833373
http://dx.doi.org/10.3390/genes14020447

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