Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.D126H
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RS1

NM_000330.4:p.D126H

Associated Papers

The D126G mutation contributes to the early-onset X-linked juvenile retinoschisis.

Suvannaboon R et al.

Scientific Reports, 2025

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

Sudha D et al.

Plos One, 2018

Proteomic profiling of human intraschisis cavity fluid.

Sudha D et al.

Clinical Proteomics, 2017

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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."