Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.W150*
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RP2

NM_006915.3:p.W150*

Associated Papers

RP2-Associated X-linked Retinopathy: Clinical Findings, Molecular Genetics, and Natural History.

Georgiou M et al.

Ophthalmology, 2023

36423731 (PubMed )
Supplement: mmc6.pdf

A Natural History Study of RP2-Related Retinopathy.

Cheloni R et al.

Journal of Clinical Medicine, 2022

Zebrafish model for the genetic basis of X-linked retinitis pigmentosa.

Raghupathy RK et al.

Zebrafish, 2013

Knockdown of the zebrafish ortholog of the retinitis pigmentosa 2 (RP2) gene results in retinal degeneration.

Shu X et al.

Investigative Ophthalmology & Visual Science, 2011

RP2 phenotype and pathogenetic correlations in X-linked retinitis pigmentosa.

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 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

Three novel mutations causing a truncated protein within the RP2 gene in Italian families with X-linked retinitis pigmentosa.

De Luca A et al.

Mutation Research, 2001

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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."