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Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration

BACKGROUND: To date, no genetic analysis of inherited retinal disease (IRD) using whole-exome sequencing (WES) has been conducted in a large-scale Korean cohort. The aim of this study was to characterise the genetic profile of IRD patients in Korea using WES. METHODS: We performed comprehensive mole...

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Detalles Bibliográficos
Autores principales:	Ma, Dae Joong, Lee, Hyun-Seob, Kim, Kwangsoo, Choi, Seongmin, Jang, Insoon, Cho, Seo-Ho, Yoon, Chang Ki, Lee, Eun Kyoung, Yu, Hyeong Gon
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2021
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7945660/ https://www.ncbi.nlm.nih.gov/pubmed/33691693 http://dx.doi.org/10.1186/s12920-021-00874-6

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