Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.E2522_G2523insA
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EYS

NM_001142800.2:p.E2522_G2523insA

Associated Papers

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 2019

Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.

Arai Y et al.

Journal of Ophthalmology, 2015

26161267 (PubMed )
Supplement: 819760.f1.pdf

Clinical phenotype in ten unrelated Japanese patients with mutations in the EYS gene.

Suto K et al.

Ophthalmic Genetics, 2014

Two novel mutations in the EYS gene are possible major causes of autosomal recessive retinitis pigmentosa in the Japanese population.

Hosono K et al.

Plos One, 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."