Associated Papers
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.
EYS is a major gene involved in retinitis pigmentosa in Japan: genetic landscapes revealed by stepwise genetic screening.
Numa S et al.
Scientific Reports, 2020
33247286 (PubMed )
Supplement: 41598_2020_77558_MOESM1_ESM.pdf
Five major sequence variants and copy number variants in the EYS gene account for one-third of Japanese patients with autosomal recessive and simplex retinitis pigmentosa.
Iwanami M et al.
Molecular Vision, 2019
Retinitis Pigmentosa with EYS Mutations Is the Most Prevalent Inherited Retinal Dystrophy in Japanese Populations.
Arai Y et al.
Journal of Ophthalmology, 2015
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