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Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa

BACKGROUND: Retinitis pigmentosa (RP) is the most common form of inherited retinal degeneration, but genetic defects in nearly half of families remain unresolved. This study aims to identify novel genes associated with RP based on whole exome sequencing (WES) data from 552 probands with RP. METHODS:...

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Detalles Bibliográficos
Autores principales: Yi, Zhen, Ouyang, Jiamin, Sun, Wenmin, Li, Shiqiang, Xiao, Xueshan, Zhang, Qingjiong
Formato: Online Artículo Texto
Lenguaje:English
Publicado: Elsevier 2020
Materias:
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC7248430/
https://www.ncbi.nlm.nih.gov/pubmed/32454406
http://dx.doi.org/10.1016/j.ebiom.2020.102792