GeneticsbioRxivPreprint
Mutations in BBS2 Cause Apparent Nonsyndromic Retinitis Pigmentosa
Meghan J. DeBenedictis, Joseph Fogerty, Gayle J. T. Pauer…·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.
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