Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E767fs
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RPGR

NM_001034853.2:p.E767fs

Associated Papers

Cone Structure and Function in RPGR- and USH2A-Associated Retinal Degeneration.

Micevych PS et al.

American Journal of Ophthalmology, 2023

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

Application of CRISPR Tools for Variant Interpretation and Disease Modeling in Inherited Retinal Dystrophies.

Fuster-García C et al.

Genes, 2020

Predictive value of genetic testing for inherited retinal diseases in patients with suspected atypical autoimmune retinopathy.

Stanwyck LK et al.

American Journal of Ophthalmology Case Reports, 2019

Next-generation sequencing identifies unexpected genotype-phenotype correlations in patients with retinitis pigmentosa.

Birtel J et al.

Plos One, 2018

30543658 (PubMed )
Supplement: pone.0207958.s002.docx

Electroretinography Reveals Difference in Cone Function between Syndromic and Nonsyndromic USH2A Patients.

Sengillo JD et al.

Scientific Reports, 2017

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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."