Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.E1020_E1024del0
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RPGR

NM_001034853.2:p.E1020_E1024del0

Associated Papers

Misdiagnosis of X-linked retinitis pigmentosa in a choroideremia patient with heavily pigmented fundi.

Nanda A et al.

Ophthalmic Genetics, 2018

Codon-Optimized RPGR Improves Stability and Efficacy of AAV8 Gene Therapy in Two Mouse Models of X-Linked Retinitis Pigmentosa.

Fischer MD et al.

Molecular Therapy : the Journal of the American Society of Gene Therapy, 2017

28549772 (PubMed )
Supplement: mmc1.pdf

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."