Varaico: Literature-Extracted Genetic Variants

Gene:RPE65
Variant:p.S2P
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RPE65

NM_000329.3:p.S2P

Associated Papers

A dominant mutation in RPE65 identified by whole-exome sequencing causes retinitis pigmentosa with choroidal involvement.

Bowne SJ et al.

European Journal of Human Genetics : Ejhg, 2011

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."