Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.W112*
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RS1

NM_000330.4:p.W112*

Associated Papers

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

Inherited Retinal Dystrophy in Southeastern United States: Characterization of South Carolina Patients and Comparative Literature Review.

Griffith J et al.

Genes, 2022

36011402 (PubMed )
Supplement: genes-13-01490-s001.zip › Table_S1.xlsx › Supplemental_Table_S1

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

Skorczyk A et al.

Molecular Vision, 2012

Phenotypic expression of X-linked retinoschisis in Chinese families with mutations in the RS1 gene.

Xu F et al.

Documenta Ophthalmologica. Advances in Ophthalmology, 2011

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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."