Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.N3123delFs
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EYS

NM_001142800.2:p.N3123delFs

Associated Papers

Age-Stratified Genetic Spectrum of Retinitis Pigmentosa in Korean Patients: Predominance of RPGR Variants in Early-Onset Disease.

Hong YJ et al.

Annals of Laboratory Medicine, 2025

Real-world evaluation of gnomAD variant co-occurrence information for haplotype phasing in autosomal recessive disorders.

Kim J et al.

Human Genomics, 2025

41331868 (PubMed )
Supplement: 40246_2025_855_MOESM1_ESM.xlsx › Table_S1.

Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.

Kim YJ et al.

Genes, 2021

33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf

Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.

Kim YN et al.

Journal of Ophthalmology, 2021

Genetic Mutation Profiles in Korean Patients with Inherited Retinal Diseases.

Kim MS et al.

Journal of Korean Medical Science, 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."