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Fig. 10
Human RERE variants exhibit hypomorphic activity in vivo and mis-localized expression in vitro. In vivo assay to determine the efficiency of human RERE variants (80 pg) to cause cyclopia in zebrafish model (A, χ2 test was used to determine level of significance and “*” denotes significant difference). In vitro assay to determine the nuclear localization pattern of human RERE wild type (WT, B) and mutant proteins (C) in HEK293 cells. Scale bar is 10 μm.
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