Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W163delFs
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RS1

NM_000330.4:p.W163delFs

Associated Papers

Case Report: Carbonic anhydrase inhibitor brinzolamide dramatically improved the morphology and also function of a patient with RS1 mutation.

Ren Y et al.

Frontiers in Pharmacology, 2025

Genotype-Phenotype Associations in an X-Linked Retinoschisis Patient Cohort: The Molecular Dynamic Insight and a Promising SD-OCT Indicator.

Wei X et al.

Investigative Ophthalmology & Visual Science, 2024

38324300 (PubMed )
Supplement: iovs-65-2-17_s001.pdf

A novel deletion mutation in RS1 gene caused X-linked juvenile retinoschisis in a Chinese family.

Huang Y et al.

Eye (london, England), 2014

Novel mutations of the RS1 gene in a cohort of Chinese families with X-linked retinoschisis.

Chen J et al.

Molecular Vision, 2014

Clinical features of X linked juvenile retinoschisis in Chinese families associated with novel mutations in the RS1 gene.

Li X et al.

Molecular Vision, 2007

Novel XLRS1 gene mutations cause X-linked juvenile retinoschisis in Chinese families.

Ma X et al.

Japanese Journal of Ophthalmology, 0

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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."