Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.P192fs
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RS1

NM_000330.4:p.P192fs

Associated Papers

[Detection and prenatal diagnosis for RS1 gene mutations in two Chinese families with X-linked juvenile retinoschisis].

Chu Y et al.

Zhonghua Yi Xue Yi Chuan Xue Za Zhi = Zhonghua Yixue Yichuanxue Zazhi = Chinese Journal of Medical Genetics, 2013

Genotypic and phenotypic spectrum of X-linked retinoschisis in Australia.

Hewitt AW et al.

Clinical & Experimental Ophthalmology, 2005

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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."