Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.N78I
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RHO

NM_000539.3:p.N78I

Associated Papers

Geographic and Phenotypic Variability in RHO-Associated Retinopathy: Evidence From a Chinese Cohort and Global Literature.

Hang C et al.

American Journal of Ophthalmology, 2025

RHO Variants and Autosomal Dominant Retinitis Pigmentosa: Insights from the Italian Genetic Landscape.

Trastulli G et al.

Genes, 2024

39336749 (PubMed )
Supplement: genes-15-01158-s001.zip › genes-3162794-supplementary.xlsx › Table_S1

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

Zhen F et al.

Frontiers in Neuroscience, 2023

Molecular basis for variations in the sensitivity of pathogenic rhodopsin variants to 9-cis-retinal.

Roushar FJ et al.

The Journal of Biological Chemistry, 2022

35850308 (PubMed )
Supplement: mmc1.pdf

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

Disease mechanisms of X-linked cone dystrophy caused by missense mutations in the red and green cone opsins.

Zhu P et al.

Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2021

Probing biophysical sequence constraints within the transmembrane domains of rhodopsin by deep mutational scanning.

Penn WD et al.

Science Advances, 2020

32181350 (PubMed )
Supplement: aay7505_SM.pdf

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

Structural and functional alterations associated with deutan N94K and R330Q mutations of green cone opsin.

Srinivasan S et al.

Biochimica Et Biophysica Acta. Molecular Basis of Disease, 2017

Ancient homology underlies adaptive mimetic diversity across butterflies.

Gallant JR et al.

Nature Communications, 2014

25198507 (PubMed )
Supplement: ncomms5817-s2.xlsx › Table_S5_-_selected_genes

RHO Mutations (p.W126L and p.A346P) in Two Japanese Families with Autosomal Dominant Retinitis Pigmentosa.

Katagiri S et al.

Journal of Ophthalmology, 2014

Rhodopsin p.N78I dominant mutation causing sectorial retinitis pigmentosa in a pedigree with intrafamilial clinical heterogeneity.

Rivera-De la Parra D et al.

Gene, 2013

Molecular screening of rhodopsin and peripherin/RDS genes in Mexican families with autosomal dominant retinitis pigmentosa.

Matias-Florentino M et al.

Current Eye Research, 2009

[Analysis of rhodopsin and peripherin/RDS genes in Chinese patients with retinitis pigmentosa].

Zhang F et al.

Yan Ke Xue Bao = Eye Science, 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."