Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R209G
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RS1

NM_000330.4:p.R209G

Associated Papers

Abnormal cone structure in foveal schisis cavities in X-linked retinoschisis from mutations in exon 6 of the RS1 gene.

Duncan JL et al.

Investigative Ophthalmology & Visual Science, 2011

Database for the mutations of the Finnish disease heritage.

Sipilä K et al.

Human Mutation, 2002

Three widespread founder mutations contribute to high incidence of X-linked juvenile retinoschisis in Finland.

Huopaniemi L et al.

European Journal of Human Genetics : Ejhg, 1999

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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."