Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.E341*
Back to variants list

RHO

NM_000539.3:p.E341*

Associated Papers

Identification of a novel RHO heterozygous nonsense mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Liu W et al.

Bmc Ophthalmology, 2021

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

Identification of two mutations of the RHO gene in two Chinese families with retinitis pigmentosa: correlation between genotype and phenotype.

Pan Z et al.

Molecular Vision, 2012

[A recurrent rhodopsin gene missense mutation in a Chinese family with autosomal dominant retinitis pigmentosa].

Wang S et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2005

Novel rhodopsin mutation in a Chinese family with autosomal dominant retinitis pigmentosa.

Zhao K et al.

Ophthalmic Genetics, 2001

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."