Varaico: Literature-Extracted Genetic Variants

Gene:RPGR
Variant:p.G436_C440del0
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RPGR

NM_001034853.2:p.G436_C440del0

Associated Papers

X-linked retinitis pigmentosa: RPGR mutations in most families with definite X linkage and clustering of mutations in a short sequence stretch of exon ORF15.

Bader I et al.

Investigative Ophthalmology & Visual Science, 2003

Mutations of RPGR in X-linked retinitis pigmentosa (RP3).

Vervoort R et al.

Human Mutation, 2002

Mutational hot spot within a new RPGR exon in X-linked retinitis pigmentosa.

Vervoort R et al.

Nature Genetics, 2000

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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."