Varaico: Literature-Extracted Genetic Variants

Gene:RP2
Variant:p.Y151*
Back to variants list

RP2

NM_006915.3:p.Y151*

Associated Papers

Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains.

Miano MG et al.

Human Mutation, 2001

Mutations in the X-linked RP2 gene cause intracellular misrouting and loss of the protein.

Schwahn U et al.

Human Molecular Genetics, 2001

Mutations in the RP2 gene cause disease in 10% of families with familial X-linked retinitis pigmentosa assessed in this study.

Hardcastle AJ et al.

American Journal of Human Genetics, 1999

Positional cloning of the gene for X-linked retinitis pigmentosa 2.

Schwahn U et al.

Nature Genetics, 1998

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."