Varaico: Literature-Extracted Genetic Variants

Gene:RHO
Variant:p.R314_N315insFs
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RHO

NM_000539.3:p.R314_N315insFs

Associated Papers

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

Novel rhodopsin mutations and genotype-phenotype correlation in patients with autosomal dominant retinitis pigmentosa.

Schuster A et al.

The British Journal of Ophthalmology, 2005

A complete screen for mutations of the rhodopsin gene in a panel of Chinese patients with autosomal dominant retinitis pigmentosa.

Zhang XL et al.

Chinese Medical Sciences Journal = Chung-kuo I Hsueh K'o Hsueh Tsa Chih, 2005

[Genotype-phenotype correlation in Chinese patients with retinitis pigmentosa due to rhodopsin mutation].

Zhang Q et al.

Yan Ke Xue Bao = Eye Science, 1999

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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."