Varaico: Literature-Extracted Genetic Variants

Gene:RS1
Variant:p.G109A
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RS1

NM_000330.4:p.G109A

Associated Papers

Frequency and Genetic Spectrum of Inherited Retinal Dystrophies in a Large Dutch Pediatric Cohort: The RD5000 Consortium.

Heutinck PAT et al.

Investigative Ophthalmology & Visual Science, 2024

39189993 (PubMed )
Supplement: iovs-65-10-40_s001.xlsx › Sheet1

Genotype and phenotype characteristics of X-linked retinoschisis: the first report of a Turkish population.

Cetin GO et al.

Ophthalmic Genetics, 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."