Investigating the disease association of USH2A p.C759F variant by leveraging large retinitis pigmentosa cohort data
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DOI: 10.1080/13816810.2017.1418388
Abstract: Retinitis pigmentosa (RP) is an inherited retinal disease with a prevalence of 1/4,000. RP is highly genetically heterogeneous and there are over 80 genes associated with RP to date. One particular USH2A variant, p.C759F, has… read more here.
Keywords: ush2a c759f; leveraging large; retinitis pigmentosa; c759f ... See more keywords