Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E767delFs
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RPGR

NM_001034853.2:p.E767delFs

Associated Papers

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

Micevych PS et al.

American Journal of Ophthalmology, 2023

Antisense oligonucleotide therapeutics in clinical trials for the treatment of inherited retinal diseases.

Xue K et al.

Expert Opinion on Investigational Drugs, 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

Diagnostic exome sequencing in 266 Dutch patients with visual impairment.

Haer-Wigman L et al.

European Journal of Human Genetics : Ejhg, 2017

28224992 (PubMed )
Supplement: ejhg20179x6.xlsx › Supplemental_table_4

Disease course in patients with autosomal recessive retinitis pigmentosa due to the USH2A gene.

Sandberg MA et al.

Investigative Ophthalmology & Visual Science, 2008

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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."