Nephronophthisis-like nephropathy 1 is an autosomal recessive disorder caused by mutations of the XPNPEP3 gene.
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O'Toole JF et al. (2010) Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy.
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| 2. |
OMIM.ORG article Omim 613159
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