Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.E183*
Back to variants list

RP2

NM_006915.3:p.E183*

Associated Papers

Molecular Epidemiology in 591 Italian Probands With Nonsyndromic Retinitis Pigmentosa and Usher Syndrome.

Colombo L et al.

Investigative Ophthalmology & Visual Science, 2021

33576794 (PubMed )
Supplement: iovs-62-2-13_s001.xlsx › Table_S6_XL

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

Jayasundera T et al.

Archives of Ophthalmology (chicago, Ill. : 1960), 2010

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

Select a paper to view details
UCSC Genome Browser·Imprint·Privacy·Terms·Feedback·Email Updates·

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."