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Mutations at some retinitis pigmentosa (RP) loci are associated with variable penetrance and expressivity, exacerbating diagnostic challenges. The purpose of this study was to dissect the genetic underpinnings of nonsyndromic RP with variable age of onset in a large Mexican family.

Whole Exome Sequencing of a Dominant Retinitis Pigmentosa Family Identifies a Novel Deletion inPRPF31