Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.P170L
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RHO

NM_000539.3:p.P170L

Associated Papers

Characterizing variants of unknown significance in rhodopsin: A functional genomics approach.

Wan A et al.

Human Mutation, 2019

Structure and function in rhodopsin: packing of the helices in the transmembrane domain and folding to a tertiary structure in the intradiscal domain are coupled.

Hwa J et al.

Proceedings of the National Academy of Sciences of the United States of America, 1997

Structure and function in rhodopsin. 7. Point mutations associated with autosomal dominant retinitis pigmentosa.

Kaushal S et al.

Biochemistry, 1994

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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."