Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E809fs
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RPGR

NM_001034853.2:p.E809fs

Associated Papers

Unveiling the Genetic and Phenotypic Landscape of a Chinese Cohort With Retinitis Pigmentosa.

Sun HN et al.

Molecular Genetics & Genomic Medicine, 2025

Clinical and molecular findings in children with retinitis pigmentosa.

Li C et al.

Ophthalmic Genetics, 2024

Molecular genetic cause of X-linked retinitis pigmentosa in a Czech family.

Liskova P et al.

Acta Ophthalmologica, 2011

Identification of novel mutations in X-linked retinitis pigmentosa families and implications for diagnostic testing.

Neidhardt J et al.

Molecular Vision, 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."