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

Authors Xu Ping, Chen Zhuolin, Ma Jianchi, Shan Yongli, Wang Yuan, Xie Bingbing, Zheng Dandan, Guo Fuying, Song Xiaojing, Gao Guanjie, Ye Ke, Liu Yizhi, Pan Guangjin, Jiang Bin, Peng Fuhua, Zhong Xiufeng
Journal Human Genetics
Publication Date 2023-04-00
DOI 10.1007/s00439-023-02531-7

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