Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E989delFs
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RPGR

NM_001034853.2:p.E989delFs

Associated Papers

7 Tesla MRI Reveals Brain Structural Abnormalities and Neural Plasticity in RPGR-Related Retinitis Pigmentosa.

Nowomiejska K et al.

Journal of Clinical Medicine, 2025

Retrospective Natural History Study of RPGR-Related Cone- and Cone-Rod Dystrophies While Expanding the Mutation Spectrum of the Disease.

Nassisi M et al.

International Journal of Molecular Sciences, 2022

Disease asymmetry and hyperautofluorescent ring shape in retinitis pigmentosa patients.

Jauregui R et al.

Scientific Reports, 2020

32098976 (PubMed )
Supplement: 41598_2020_60137_MOESM1_ESM.pdf
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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."