Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.Q64*
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RHO

NM_000539.3:p.Q64*

Associated Papers

Cystoid Macular Edema in Non-Syndromic Retinitis Pigmentosa: Associations With Causative Genes in a Large Cohort.

Testa F et al.

Investigative Ophthalmology & Visual Science, 2025

RHO-Associated Retinitis Pigmentosa: Genetics, Phenotype, Natural History, Functional Assays, and Animal Model - In Preparation for Clinical Trials.

Daich Varela M et al.

Investigative Ophthalmology & Visual Science, 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

Mutation analysis of RHO in patients with non-syndromic retinitis pigmentosa.

Zhuang J et al.

Ophthalmic Genetics, 2024

Sensitivity optimization of a rhodopsin-based fluorescent voltage indicator.

Abdelfattah AS et al.

Neuron, 2023

37015225 (PubMed )
Supplement: NIHMS1883979-supplement-Table_S1.xlsx › good_grouped_singles

Genotype and phenotype characteristics of RHO-associated retinitis pigmentosa in the Japanese population.

Sakai D et al.

Japanese Journal of Ophthalmology, 2023

Clinical and genetic features of Koreans with retinitis pigmentosa associated with mutations in rhodopsin.

Jung YH et al.

Frontiers in Genetics, 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

Variant Profiling of a Large Cohort of 138 Chinese Families With Autosomal Dominant Retinitis Pigmentosa.

Xiao T et al.

Frontiers in Cell and Developmental Biology, 2020

33598457 (PubMed )
Supplement: Data_Sheet_1.XLSX › sheet_1

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

Nonsense mutations in the rhodopsin gene that give rise to mild phenotypes trigger mRNA degradation in human cells by nonsense-mediated decay.

Roman-Sanchez R et al.

Experimental Eye Research, 2016

Retinal histopathology in eyes from patients with autosomal dominant retinitis pigmentosa caused by rhodopsin mutations.

Bonilha VL et al.

Graefe's Archive for Clinical and Experimental Ophthalmology = Albrecht Von Graefes Archiv Fur Klinische Und Experimentelle Ophthalmologie, 2015

[Recent progress in molecular genetics and gene therapy for retinitis pigmentosa].

Wang DY et al.

[zhonghua Yan Ke Za Zhi] Chinese Journal of Ophthalmology, 2005

Gene mutations in retinitis pigmentosa and their clinical implications.

Wang DY et al.

Clinica Chimica Acta; International Journal of Clinical Chemistry, 2005

Signal transduction in the retina and inherited retinopathies.

Shastry BS

Cellular and Molecular Life Sciences : Cmls, 1997

A novel null mutation in the rhodopsin gene causing late onset autosomal dominant retinitis pigmentosa.

Sánchez B et al.

Human Mutation, 1996

Missense mutation A346P in the rhodopsin gene in one family with autosomal dominant retinitis pigmentosa.

Borrego S et al.

Human Mutation, 1996

Missense rhodopsin mutation in a family with recessive RP.

Kumaramanickavel G et al.

Nature Genetics, 1994

[Molecular-genetic basis of tapetoretinal degeneration].

Dzhemileva LU et al.

Molekuliarnaia Biologiia, 0

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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."