Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N2S
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RHO

NM_000539.3:p.N2S

Associated Papers

Comparison of the molecular properties of retinitis pigmentosa P23H and N15S amino acid replacements in rhodopsin.

Mitchell J et al.

Plos One, 2019

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

Photoactivation-induced instability of rhodopsin mutants T4K and T17M in rod outer segments underlies retinal degeneration in X. laevis transgenic models of retinitis pigmentosa.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2014

The role of rhodopsin glycosylation in protein folding, trafficking, and light-sensitive retinal degeneration.

Tam BM et al.

The Journal of Neuroscience : the Official Journal of the Society for Neuroscience, 2009

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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."