Comparative exome sequencing reveals novel candidate genes for retinitis pigmentosa

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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Bibliographic Details
Main Authors: Zhen Yi, Jiamin Ouyang, Wenmin Sun, Shiqiang Li, Xueshan Xiao, Qingjiong Zhang
Format: Article
Language:English
Published: Elsevier 2020-06-01
Series:EBioMedicine
Subjects:
Retinitis pigmentosa
ENSA
DACT2
Loss-of-function variant
Knockout mice
Knockdown zebrafish
Online Access:http://www.sciencedirect.com/science/article/pii/S2352396420301675

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http://www.sciencedirect.com/science/article/pii/S2352396420301675

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