Eblimit A, Nguyen TM, Chen Y, Esteve-Rudd J, Zhong H, Letteboer S, Van Reeuwijk J, Simons DL, Ding Q, Wu KM, Li Y, Van Beersum S, Moayedi Y, Xu H, Pickard P, Wang K, Gan L, Wu SM, Williams DS, Mardon G, Roepman R, Chen R

Spata7 is a retinal ciliopathy gene critical for correct RPGRIP1 localization and protein trafficking in the retina.

Hum Mol Genet 24:1584-601 (2015)
DOI:10.1093/hmg/ddu573

[hsa:55812]

Wang H, den Hollander AI, Moayedi Y, Abulimiti A, Li Y, Collin RW, Hoyng CB, Lopez I, Abboud EB, Al-Rajhi AA, Bray M, Lewis RA, Lupski JR, Mardon G, Koenekoop RK, Chen R

Mutations in SPATA7 cause Leber congenital amaurosis and juvenile retinitis pigmentosa.

Am J Hum Genet 84:380-7 (2009)
DOI:10.1016/j.ajhg.2009.02.005

[hsa:55812]