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REEP6 deficiency leads to retinal degeneration through disruption of ER homeostasis and protein trafficking.

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第一作者： Smriti A,Agrawal

第一单位： Department of Molecular and Human Genetics.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA.

作者： Smriti A,Agrawal ^[1] ; Thomas,Burgoyne ^[2] ; Aiden,Eblimit ^[1] ; James,Bellingham ^[2] ; David A,Parfitt ^[2] ; Amelia,Lane ^[2] ; Ralph,Nichols ^[3] ; Chinwe,Asomugha ^[4] ; Matthew J,Hayes ^[2] ; Peter M,Munro ^[2] ; Mingchu,Xu ^[1] ; Keqing,Wang ^[1] ; Clare E,Futter ^[2] ; Yumei,Li ^[1] ; Rui,Chen ^[1] ; Michael E,Cheetham ^[2]

作者单位： Department of Molecular and Human Genetics.;Human Genome Sequencing Center, Baylor College of Medicine, Houston, TX 77030-3411, USA. ^[1] UCL Institute of Ophthalmology, 11-43 Bath Street, London EC1V 9EL, UK. ^[2] Department of Ophthalmology. ^[3] Department of Molecular Physiology and Biophysics, Baylor College of Medicine, Houston, TX 77030-3411, USA. ^[4]