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22. Novel NR2E3 mutations (R104Q, R334G) associated with a mild form of enhanced S-cone syndrome demonstrate compound heterozygosity. Hayashi T; Gekka T; Goto-Omoto S; Takeuchi T; Kubo A; Kitahara K Ophthalmology; 2005 Dec; 112(12):2115. PubMed ID: 16225923 [TBL] [Abstract][Full Text] [Related]
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