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2016•Canadian Journal of OphthalmologyRequires access

Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa

Hassol Lim, Young-Mi Park, Jong‐Keuk Lee, Hyun Taek Lim

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Key concepts: Exome sequencing, Sanger sequencing, Proband, Retinitis pigmentosa, Exome, Genetics, Frameshift mutation, Biology

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Single-Exome sequencing identified a novel RP2 mutation in a child with X-linked retinitis pigmentosa — Research Paper | ScholarLens