Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.L2770P
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EYS

NM_001142800.2:p.L2770P

Associated Papers

Determinants of diagnostic yield in a multi-ethnic Asian inherited retinal disease cohort.

Lieviant JA et al.

European Journal of Human Genetics : Ejhg, 2025

40114034 (PubMed )
Supplement: 41431_2025_1833_MOESM3_ESM.xlsx › Supplementary_Table_1

Axial Length Profiles in Inherited Retinal Diseases-A Genotypic and Phenotypic Analysis.

Zhang L et al.

Investigative Ophthalmology & Visual Science, 2025

41117592 (PubMed )
Supplement: iovs-66-13-32_s002.xlsx › Sheet1

Spectrum of inherited eye disorders at Hong Kong Children's Hospital: insights into the local genetic landscape and experience with ocular genetic services.

Cheng SSW et al.

Hong Kong Medical Journal = Xianggang Yi Xue Za Zhi, 2025

40755077 (PubMed )
Supplement: hkmj2412298-supplementary.pdf

Phenotypic Distinctions Between EYS- and USH2A-Associated Retinitis Pigmentosa in an Asian Population.

Yeo EYH et al.

Translational Vision Science & Technology, 2025

39932467 (PubMed )
Supplement: tvst-14-2-16_s003.pdf

Highly efficient capture approach for the identification of diverse inherited retinal disorders.

Kao HJ et al.

Npj Genomic Medicine, 2024

38195571 (PubMed )
Supplement: 41525_2023_388_MOESM4_ESM.xlsx › Solved_cases

RETINITIS PIGMENTOSA ASSOCIATED WITH THE EYS C2139Y VARIANT : An Important Cause of Blindness in East Asian Populations.

Chan CM et al.

Retina (philadelphia, Pa.), 2023

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

Genotype Profile of Global EYS-Associated Inherited Retinal Dystrophy and Clinical Findings in a Large Chinese Cohort.

Xu K et al.

Frontiers in Cell and Developmental Biology, 2021

34178978 (PubMed )
Supplement: Table_2.XLSX › Sheet1
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