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. 2016 Nov 22;6:37455. doi: 10.1038/srep37455

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Copyright © 2016, The Author(s)

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For each mutation, wild-type (wt) sequence is depicted with the homozygous and heterozygous sequences. (A) c.2293C > T; p.R765C (CNGB1), (B) c.1129-2A > G (RPE65), (C) c.[325C > T];[569T > A] (RPE65), (D) c.1010A > G; p.H337R (PDE6B), (E) c.678_681delGAAG (FAM161A), and (F) c.1133 + 3_1133 + 6delAAGT(CERKL). Arrows indicate the position of the mutated nucleotide.