Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G135E
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RS1

NM_000330.4:p.G135E

Associated Papers

Genotype-Phenotype Correlations in 83 Korean X-linked Retinoschisis Patients: Impact of Retinoschisin 1 Secretion Profiles on Clinical Phenotypes.

Lee SJ et al.

Ophthalmology. Retina, 2025

MACULAR MICROVASCULATURE IN X-LINKED RETINOSCHISIS: Optical Coherence Tomography and Optical Coherence Tomography Angiography Study.

Kwon HJ et al.

Retina (philadelphia, Pa.), 2022

Novel mutations in the RS1 gene in Japanese patients with X-linked congenital retinoschisis.

Kondo H et al.

Human Genome Variation, 2019

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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."