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Nature Genetics|May 10, 2006
The centrosomal protein nephrocystin-6 is mutated in Joubert syndrome and activates transcription factor ATF4John A Sayer, Edgar A Otto, John F O'Toole, et al.
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|May 5, 2011
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafnessSaskia F Heeringa, Gil Chernin, Moumita Chaki, et al.
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