Varaico: Literature-Extracted Genetic Variants

Gene:PRPH2
Variant:p.Q226E
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PRPH2

NM_000322.5:p.Q226E

Associated Papers

In Vivo Analysis of Disease-Associated Point Mutations Unveils Profound Differences in mRNA Splicing of Peripherin-2 in Rod and Cone Photoreceptors.

Becirovic E et al.

Plos Genetics, 2016

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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."