Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.A299S
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RHO

NM_000539.3:p.A299S

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_S1_LOVD.xlsx › LOVD_2022-04-19

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

Wan A et al.

Human Mutation, 2019

30977563 (PubMed )
Supplement: HUMU-40-1127-s002.xlsx › Table_S1

Coupling of Human Rhodopsin to a Yeast Signaling Pathway Enables Characterization of Mutations Associated with Retinal Disease.

Scott BM et al.

Genetics, 2019

Rhodopsin gene polymorphism associated with divergent light environments in Atlantic cod.

Pampoulie C et al.

Behavior Genetics, 2015

Spectrum of rhodopsin gene mutations in Chinese patients with retinitis pigmentosa.

Yang G et al.

Molecular Vision, 2014

Analysis of disease-linked rhodopsin mutations based on structure, function, and protein stability calculations.

Rakoczy EP et al.

Journal of Molecular Biology, 2011

Mutation spectrum and frequency of the RHO gene in 248 Chinese families with retinitis pigmentosa.

Li S et al.

Biochemical and Biophysical Research Communications, 2010

Molecular mechanisms of rhodopsin retinitis pigmentosa and the efficacy of pharmacological rescue.

Krebs MP et al.

Journal of Molecular Biology, 2010

Differential occurrence of mutations causative of eye diseases in the Chinese population.

Pang CP et al.

Human Mutation, 2002

Rhodopsin mutations in Chinese patients with retinitis pigmentosa.

Chan WM et al.

The British Journal of Ophthalmology, 2001

Mechanism of spectral tuning in the dolphin visual pigments.

Fasick JI 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."