Varaico: Literature-Extracted Genetic Variants

Gene:RP1
Variant:p.G706R
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RP1

NM_006269.2:p.G706R

Associated Papers

Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.

Mizobuchi K et al.

Journal of Clinical Medicine, 2021

Dominant RP in the Middle While Recessive in Both the N- and C-Terminals Due to RP1 Truncations: Confirmation, Refinement, and Questions.

Wang J et al.

Frontiers in Cell and Developmental Biology, 2021

An Ophthalmic Targeted Exome Sequencing Panel as a Powerful Tool to Identify Causative Mutations in Patients Suspected of Hereditary Eye Diseases.

Wang P et al.

Translational Vision Science & Technology, 2019

31106028 (PubMed )
Supplement: tvst-08-02-12_s02.xlsx › FINAL-AD-AR-XL-ONE

Microarray-based mutation detection and phenotypic characterization in Korean patients with retinitis pigmentosa.

Kim C et al.

Molecular Vision, 2012

Differential pattern of RP1 mutations in retinitis pigmentosa.

Zhang X et al.

Molecular Vision, 2010

A novel missense RP1 mutation in retinitis pigmentosa.

Chiang SW et al.

Eye (london, England), 2006

[Digenic association of RHO and RP1 genes with retinitis pigmentosa among Chinese population in Hong Kong].

Wang DY et al.

Zhonghua Yi Xue Za Zhi, 2005

RP1 in Chinese: Eight novel variants and evidence that truncation of the extreme C-terminal does not cause retinitis pigmentosa.

Baum L et al.

Human Mutation, 2001

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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."