Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.H100N
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RHO

NM_000539.3:p.H100N

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

Building a model of the blue cone pigment based on the wild type rhodopsin structure with QM/MM methods.

Frähmcke JS et al.

The Journal of Physical Chemistry. B, 2012

Spectroscopic evidence for interaction between transmembrane helices 3 and 5 in rhodopsin.

Beck M et al.

Biochemistry, 1998

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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."