Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R314insFs
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RHO

NM_000539.3:p.R314insFs

Associated Papers

A truncated form of rod photoreceptor PDE6 β-subunit causes autosomal dominant congenital stationary night blindness by interfering with the inhibitory activity of the γ-subunit.

Manes G et al.

Plos One, 2014

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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."