Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R21C
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RHO

NM_000539.3:p.R21C

Associated Papers

Exploring genotype-phenotype correlations in pathological myopia: a case report.

Kong Q et al.

Frontiers in Medicine, 2025

Rhodopsin-associated retinal dystrophy: Disease mechanisms and therapeutic strategies.

Zhen F et al.

Frontiers in Neuroscience, 2023

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

Integrated molecular characterization reveals potential therapeutic strategies for pulmonary sarcomatoid carcinoma.

Yang Z et al.

Nature Communications, 2020

32985499 (PubMed )
Supplement: 41467_2020_18702_MOESM5_ESM.xlsx › Sheet1

Exome sequencing reveals a novel variant in NFX1 causing intracranial aneurysm in a Chinese family.

Ding X et al.

Journal of Neurointerventional Surgery, 2020

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

The molecular and cellular basis of rhodopsin retinitis pigmentosa reveals potential strategies for therapy.

Athanasiou D et al.

Progress in Retinal and Eye Research, 2018

Effects of Pathogenic Variations in the Human Rhodopsin Gene (hRHO) on the Predicted Accessibility for a Lead Candidate Ribozyme.

Froebel BR et al.

Investigative Ophthalmology & Visual Science, 2017

28715844 (PubMed )
Supplement: iovs-58-05-25_s02.pdf

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

Yang G et al.

Molecular Vision, 2014

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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."