Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.I3070T
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EYS

NM_001142800.2:p.I3070T

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

41457516 (PubMed )
Supplement: alm-46-2-200-supple.pdf

Likely pathogenic structural variants in genetically unsolved patients with retinitis pigmentosa revealed by long-read sequencing.

Sano Y et al.

Journal of Medical Genetics, 2022

35710107 (PubMed )
Supplement: jmedgenet-2022-108428supp001.pdf

Genetic characteristics and epidemiology of inherited retinal degeneration in Taiwan.

Chen TC et al.

Npj Genomic Medicine, 2021

33608557 (PubMed )
Supplement: 41525_2021_180_MOESM2_ESM.xlsx › ___1

Application of targeted panel sequencing and whole exome sequencing for 76 Chinese families with retinitis pigmentosa.

Dan H et al.

Molecular Genetics & Genomic Medicine, 2020

CHOROIDAL AND RETINAL ATROPHY OF BIETTI CRYSTALLINE DYSTROPHY PATIENTS WITH CYP4V2 MUTATIONS COMPARED TO RETINITIS PIGMENTOSA PATIENTS WITH EYS MUTATIONS.

Miyata M et al.

Retina (philadelphia, Pa.), 2017

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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."