Associated Papers
Clinical Exome-Based Redefinition and Reclassification of Retinitis Pigmentosa.
Park HS et al.
Journal of Korean Medical Science, 2025
40296824 (PubMed )
Supplement: jkms-40-e54-s001.xls › causative_variants_by_patientno
Phenotypic variability of RP1-related inherited retinal dystrophy associated with the c.5797 C > T (p.Arg1933*) variant in the Japanese population.
Natsume K et al.
Scientific Reports, 2024
Diverse Genetic Landscape of Suspected Retinitis Pigmentosa in a Large Korean Cohort.
Kim YJ et al.
Genes, 2021
33946315 (PubMed )
Supplement: genes-12-00675-s001.zip › genes-1171954-supplementary.pdf
Whole-exome sequencing in 168 Korean patients with inherited retinal degeneration.
Ma DJ et al.
Bmc Medical Genomics, 2021
33691693 (PubMed )
Supplement: 12920_2021_874_MOESM1_ESM.xlsx › Sheet1
Genetic Profile and Associated Characteristics of 150 Korean Patients with Retinitis Pigmentosa.
Kim YN et al.
Journal of Ophthalmology, 2021
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
Relationship Between Macular Curvature and Common Causative Genes of Retinitis Pigmentosa in Japanese Patients.
Koyanagi Y et al.
Investigative Ophthalmology & Visual Science, 2020
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