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Assessment of Human UNC45A c.1268T>A, Resulting in a p.Val423Asp Change (V423N), on Zones 2 and 3 of Mutant unc45a Zebrafishes
Mutant embryos were injected with either WT or V423N-encoding mRNA and intestinal folds were observed using brightfield microscopy. Mutants injected with WT encoding mRNA were able to restore folds in zones 2 and 3, but those injected with V423N-encoding mRNA were not restored, illustrating that V423N is pathogenic.
