Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.R218delFs
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RP2

NM_006915.3:p.R218delFs

Associated Papers

Mutations in RPGR and RP2 of Chinese patients with X-linked retinitis pigmentosa.

Ji Y et al.

Current Eye Research, 2010

Comprehensive survey of mutations in RP2 and RPGR in patients affected with distinct retinal dystrophies: genotype-phenotype correlations and impact on genetic counseling.

Pelletier V et al.

Human Mutation, 2007

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."