Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Q154*
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RS1

NM_000330.4:p.Q154*

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 retinoschisis: clinical phenotype and RS1 genotype in 86 UK patients.

Pimenides D et al.

Journal of Medical Genetics, 2005

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

Nakazawa M

Nippon Ganka Gakkai Zasshi, 1999

Japanese juvenile retinoschisis is caused by mutations of the XLRS1 gene.

Hotta Y et al.

Human Genetics, 1998

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

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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."