Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.Q80*
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RS1

NM_000330.4:p.Q80*

Associated Papers

Comprehensive analysis of genetic and clinical characteristics of 30 patients with X-linked juvenile retinoschisis in China.

Gao FJ et al.

Acta Ophthalmologica, 2021

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A et al.

Molecular Vision, 2012

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

A novel truncating Rs1 mutation associated with X-linked juvenile retinoschisis.

Jin ZB et al.

Japanese Journal of Ophthalmology, 0

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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."