Estrada-Cuzcano A., Koenekoop R.K., Coppieters F., Kohl S., Lopez I., Collin R.W., De Baere E.B., Roeleveld D., Marek J., Bernd A. et al.

Invest. Ophthalmol. Vis. Sci. 52:834-839(2011) GeneRIF 9657 · Mapped (1)
Results show that the onset of renal failure in patients with IQCB1 mutations is highly variable and that mutations are also found in Leber congenital amaurosis (LCA) patients without nephronophthisis rendering IQCB1 a new gene for LCA. GeneRIF 9657

Otto E.A., Ramaswami G., Janssen S., Chaki M., Allen S.J., Zhou W., Airik R., Hurd T.W., Ghosh A.K., Wolf M.T. et al.

J. Med. Genet. 48:105-116(2011) GeneRIF 9657 · UniProtKB (1) · Mapped (51)
Observational study of gene-disease association. (HuGE Navigator) GeneRIF 9657

Stone E.M., Cideciyan A.V., Aleman T.S., Scheetz T.E., Sumaroka A., Ehlinger M.A., Schwartz S.B., Fishman G.A., Traboulsi E.I., Lam B.L. et al.

Arch. Ophthalmol. 129:81-87(2011) GeneRIF 9657 · Mapped (1)
Mutations in NPHP5 can cause Leber congenital amaurosis (LCA)without early-onset renal disease. GeneRIF 9657

Cideciyan A.V., Rachel R.A., Aleman T.S., Swider M., Schwartz S.B., Sumaroka A., Roman A.J., Stone E.M., Jacobson S.G., Swaroop A.

Hum. Mol. Genet. 20:1411-1423(2011) GeneRIF 9657 · Mapped (12)
Cone photoreceptors are the main targets for gene therapy of NPHP5 (IQCB1) or NPHP6 (CEP290) blindness: generation of an all-cone Nphp6 hypomorph mouse that mimics the human retinal ciliopathy. GeneRIF 9657

Fahim A.T., Bowne S.J., Sullivan L.S., Webb K.D., Williams J.T., Wheaton D.K., Birch D.G., Daiger S.P.

PLoS ONE 6:e23021-e23021(2011) GeneRIF 9657 · Mapped (4)
Data show that the minor allele (N) of I393N in IQCB1 and the common allele (R) of R744Q in RPGRIP1L were associated with severe disease in XlRP with RPGR mutations. GeneRIF 9657

Wang X., Wang H., Cao M., Li Z., Chen X., Patenia C., Gore A., Abboud E.B., Al-Rajhi A.A., Lewis A.R. et al.

Hum. Mutat. 32:1450-1459(2011) GeneRIF 9657 · UniProtKB (2) · Mapped (8)
in a set of consanguineous patient families with Leber congenital amaurosis study identified five putative disease-causing mutations including four novel alleles in six families; These five mutations are located in four genes ALMS1 IQCB1 CNGA3 and MYO7A GeneRIF 9657

Fahim A.T., Bowne S.J., Sullivan L.S., Webb K.D., Williams J.T., Wheaton D.K., Birch D.G., Daiger S.P.

Adv. Exp. Med. Biol. 723:313-320(2012) GeneRIF 9657 · Mapped (4)
Genetic variation may affect severity of disease for X-linked retinitis pigmentosa. GeneRIF 9657