Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.S73*
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RS1

NM_000330.4:p.S73*

Associated Papers

Full-Field Electroretinography, Pupillometry, and Luminance Thresholds in X-Linked Retinoschisis.

McAnany JJ et al.

Investigative Ophthalmology & Visual Science, 2020

Genetic analysis and clinical features of X-linked retinoschisis in Chinese patients.

Hu QR et al.

Scientific Reports, 2017

Four novel RS1 gene mutations in Polish patients with X-linked juvenile retinoschisis.

Skorczyk A et al.

Molecular Vision, 2012

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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."