Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.T1664insFs
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EYS

NM_001142800.2:p.T1664insFs

Associated Papers

Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.

Huang YS et al.

Investigative Ophthalmology & Visual Science, 2025

41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases

Genotypes Influence Clinical Progression in EYS-Associated Retinitis Pigmentosa.

Lo JE et al.

Translational Vision Science & Technology, 2022

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
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