Mutations in BBS2 Cause Apparent Nonsyndromic Retinitis Pigmentosa
Meghan J. DeBenedictis, Joseph Fogerty, Gayle J. T. Pauer, John Chiang, Stephanie A. Hagstrom, Elias I. Traboulsi, Brian D. Perkins
The paper identifies BBS2 mutations causing retinitis pigmentosa in a family and shows their effect on ciliary localization and zebrafish retinal phenotypes.
bioRxiv · Jun 3, 2020 · PreprintGenetics