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Article

RGR variants in different forms of retinal diseases: The undetermined role of truncation mutations.

Molecular medicine reports - 1 Nov 2016

Li Jiali, Xiao Xueshan, Li Shiqiang, Jia Xiaoyun, Guo Xiangming, Zhang Qingjiong

Abstract excerpt

It has been previously reported that mutations in retinal G protein coupled receptor (RGR) are associated with retinitis pigmentosa. The present study aims to systemically analyze the potential role of variants of RGR in retinal diseases. Variants in coding regions and splice sites of RGR were selected from a whole exome sequencing dataset of 820 probands with various forms of genetic ocular diseases. Potential...

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Identifiers

PMID: 27748892
DOI: 10.3892/mmr.2016.5847

Genes

RGR

Variants

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