Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E797fs
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RPGR

NM_001034853.2:p.E797fs

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

Identification of the RPGR Gene Pathogenic Variants in a Cohort of Polish Male Patients with Retinitis Pigmentosa Phenotype.

Nowomiejska K et al.

Genes, 2023

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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."