Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.C142S
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RS1

NM_000330.4:p.C142S

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

Defective discoidin domain structure, subunit assembly, and endoplasmic reticulum processing of retinoschisin are primary mechanisms responsible for X-linked retinoschisis.

Wu WW et al.

The Journal of Biological Chemistry, 2003

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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."