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Nature Genetics|November 7, 2006
Positional cloning uncovers mutations in PLCE1 responsible for a nephrotic syndrome variant that may be reversibleBernward Hinkes, Roger C Wiggins, Rasheed Gbadegesin, et al.
The Journal of Clinical Investigation|February 25, 2010
Individuals with mutations in XPNPEP3, which encodes a mitochondrial protein, develop a nephronophthisis-like nephropathyJohn F O'Toole, Yangjian Liu, Erica E Davis, et al.
Cell|August 7, 2012
Exome capture reveals ZNF423 and CEP164 mutations, linking renal ciliopathies to DNA damage response signalingMoumita Chaki, Rannar Airik, Amiya K Ghosh, et al.
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