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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RPGR

Variant:p.G1005fs

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RPGR

NM_001034853.2:p.G1005fs

hg38:chrX:38285986 TCC>N

Associated Papers

Retinitis Pigmentosa GTPase regulator-Associated Retinal Degeneration: Integrating Patient-Reported Outcomes, Genetic, and Structural Biomarkers.

Gouveia N et al.

Ophthalmology Science, 2026

41049110 (PubMed )

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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."