Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Y43F
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RHO

NM_000539.3:p.Y43F

Associated Papers

Mechanisms of KCNQ1 channel dysfunction in long QT syndrome involving voltage sensor domain mutations.

Huang H et al.

Science Advances, 2018

Rod and cone opsin families differ in spectral tuning domains but not signal transducing domains as judged by saturated evolutionary trace analysis.

Carleton KL et al.

Journal of Molecular Evolution, 2005

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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."