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- 2019
Clinical findings of end-stage retinitis pigmentosa with a homozygous PDE6A variant (p.R653X)DOI: 10.1016/j.ajoc.2018.12.019 Keywords: Retinitis pigmentosa, PDE6A, Japanese, Next generation sequencing, Chorioretinal atrophy Abstract: To report clinical and genetic features of a Japanese patient with end-stage retinitis pigmentosa (RP) caused by a homozygous PDE6A variant
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