Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.D158N
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RS1

NM_000330.4:p.D158N

Associated Papers

Coexpression and interaction of wild-type and missense RS1 mutants associated with X-linked retinoschisis: its relevance to gene therapy.

Dyka FM et al.

Investigative Ophthalmology & Visual Science, 2007

[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

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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."