O'Toole et al., 2010 - Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathy. J. Clin. Invest.   120(3):791-802 Full text @ J. Clin. Invest.
2 Genes / Markers
Marker Type Symbol Name
Gene dnaaf1 dynein axonemal assembly factor 1
Gene xpnpep3 X-prolyl aminopeptidase 3, mitochondrial