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Otto EA, Ramaswami A, Janssen S, et al. Mutation analysis of 18 nephronophthisis associated ciliopathy disease genes using a DNA pooling and next generation sequencing strategy. J Med Genet 2011;48:105–6 doi:10.1136/jmg-2010-082552. The amino acid change to patient A805-21 in table 4 has been corrected to R390K.

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