Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.E215Q
Back to variants list

RS1

NM_000330.4:p.E215Q

Associated Papers

Correlation of genetic and clinical findings in Spanish patients with X-linked juvenile retinoschisis.

Riveiro-Alvarez R et al.

Investigative Ophthalmology & Visual Science, 2009

Gene symbol: RS1. Disease: Retinoschisis, X-Linked juvenile.

Riveiro-Alvarez R et al.

Human Genetics, 2008

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro-Alvarez R et al.

Human Genetics, 2005

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R et al.

Human Genetics, 2005

Gene symbol: RS1. Disease: X-linked juvenile retinoschisis.

Riveiro R et al.

Human Genetics, 2005

[X-linked juvenile retinoschisis and XLRS 1 gene abnormality].

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Functional implications of the spectrum of mutations found in 234 cases with X-linked juvenile retinoschisis. The Retinoschisis Consortium.

Unknown Author

Human Molecular 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."