In vitro modeling and rescue of ciliopathy associated with IQCB1/NPHP5 mutations using patient-derived cells
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Mutations in the IQ calmodulin-binding motif containing B1 (IQCB1)/NPHP5 gene encoding the ciliary protein nephrocystin 5 cause early-onset blinding disease Leber congenital amaurosis (LCA), together with kidney dysfunction in Senior-Løken syndrome. For in vi... ...
