Published in Hum Mol Genet on April 21, 2006
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Combining Cep290 and Mkks ciliopathy alleles in mice rescues sensory defects and restores ciliogenesis. J Clin Invest (2012) 1.09
NPHP4 is necessary for normal photoreceptor ribbon synapse maintenance and outer segment formation, and for sperm development. Hum Mol Genet (2010) 1.09
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Disruption of CEP290 microtubule/membrane-binding domains causes retinal degeneration. J Clin Invest (2013) 1.01
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TOPORS, implicated in retinal degeneration, is a cilia-centrosomal protein. Hum Mol Genet (2010) 1.01
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