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Browsing by Author O'Toole, J.F.
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| Full Text | Issue Date | Title | Author(s) | | 2010 | Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. | O'Toole, J.F.; Liu, Y.; Davis, E.E.; Westlake, C.J.; Attanasio, M., et al |
| 2010 | AHI1 is required for photoreceptor outer segment development and is a modifier for retinal degeneration in nephronophthisis. | Louie, C.M.; Caridi, G.; Lopes, V.S.; Brancati, F.; Kispert, A., et al |
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