Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.R141S
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RS1

NM_000330.4:p.R141S

Associated Papers

Cryo-EM of retinoschisin branched networks suggests an intercellular adhesive scaffold in the retina.

Heymann JB et al.

The Journal of Cell Biology, 2019

Understanding variable disease severity in X-linked retinoschisis: Does RS1 secretory mechanism determine disease severity?

Sudha D et al.

Plos One, 2018

Structural analysis of X-linked retinoschisis mutations reveals distinct classes which differentially effect retinoschisin function.

Ramsay EP et al.

Human Molecular Genetics, 2016

Characterization and purification of the discoidin domain-containing protein retinoschisin and its interaction with galactose.

Dyka FM et al.

Biochemistry, 2008

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

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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."