Varaico: Literature-Extracted Genetic Variants

Gene:EYS
Variant:p.R1638fs
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EYS

NM_001142800.2:p.R1638fs

Associated Papers

De Novo Mutations Contributes Approximately 7% of Pathogenicity in Inherited Eye Diseases.

Li W et al.

Investigative Ophthalmology & Visual Science, 2023

36729443 (PubMed )
Supplement: iovs-64-2-5_s003.xlsx › All_Identified_Causative_Mutant

Genotypic spectrum and phenotype correlations of EYS-associated disease in a Chinese cohort.

Gao FJ et al.

Eye (london, England), 2022

34689181 (PubMed )
Supplement: 41433_2021_1794_MOESM5_ESM.pdf
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