Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G759V
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RPGR

NM_001034853.2:p.G759V

Associated Papers

Gene Therapy for Retinitis Pigmentosa: Current Challenges and New Progress.

Liu Y et al.

Biomolecules, 2024

Retinal Ciliopathies and Potential Gene Therapies: A Focus on Human iPSC-Derived Organoid Models.

McDonald A et al.

International Journal of Molecular Sciences, 2024

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

Micevych PS et al.

American Journal of Ophthalmology, 2023

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."