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Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function

Ping Xu, Zhuolin Chen, Jianchi Ma, Yongli Shan, Yuan Wang, Bingbing Xie, Dandan Zheng, Fuying Guo, Xiaojing Song, Guanjie Gao, Ke Ye, Wei Li, Guangjin Pan, Bin Jiang, Fuhua Peng, Xiufeng Zhong

2023Human Genetics20 citationsDOI

Topics & Concepts

BiologyRetinal degenerationRetinal pigment epitheliumRetinaRetinalCell biologyChloride channelMutationGeneticsNeuroscienceGeneBiochemistryRetinal Development and DisordersCellular transport and secretionPhotoreceptor and optogenetics research
Biallelic CLCN2 mutations cause retinal degeneration by impairing retinal pigment epithelium phagocytosis and chloride channel function | Litcius