Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R177K
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RHO

NM_000539.3:p.R177K

Associated Papers

CRISPR DNA Base Editing Strategies for Treating Retinitis Pigmentosa Caused by Mutations in Rhodopsin.

Kaukonen M et al.

Genes, 2022

35893064 (PubMed )
Supplement: genes-13-01327-s001.zip › Table_S3_gnomAD.xlsx › gnomAD_2022-04-19

Rhodopsin gene mutation analysis in Iranian patients with autosomal dominant retinitis pigmentosa.

Roshandel D et al.

International Ophthalmology, 2019

Computational Screening of Rhodopsin Mutations Associated with Retinitis Pigmentosa.

Felline A et al.

Journal of Chemical Theory and Computation, 2009

Stability of dark state rhodopsin is mediated by a conserved ion pair in intradiscal loop E-2.

Janz JM et al.

The Journal of Biological Chemistry, 2003

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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."