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Precision Medicine through Next-Generation Sequencing in Inherited Eye Diseases in a Korean Cohort

In this study, we investigated medically or surgically actionable genes in inherited eye disease, based on clinical phenotype and genomic data. This retrospective consecutive case series included 149 patients with inherited eye diseases, seen by a single pediatric ophthalmologist, who underwent gene...

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Detalles Bibliográficos
Autores principales: Moon, Dabin, Park, Hye Won, Surl, Dongheon, Won, Dongju, Lee, Seung-Tae, Shin, Saeam, Choi, Jong Rak, Han, Jinu
Formato: Online Artículo Texto
Lenguaje:English
Publicado: MDPI 2021
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC8774510/
https://www.ncbi.nlm.nih.gov/pubmed/35052368
http://dx.doi.org/10.3390/genes13010027