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
Genotype-Phenotype Correlations in RP1-Associated Retinal Dystrophies: A Multi-Center Cohort Study in JAPAN.
Mizobuchi K et al.
Journal of Clinical Medicine, 2021
34073704 (PubMed )
Supplement: jcm-10-02265-s001.zip › jcm-1206736-supplementary_15.12.14 › Supplemental_table_S1_Clinical_findings_of_patients_with_pathogenic_RP1_variants.xlsx › Sheet1
A founder Alu insertion in RP1 gene in Japanese patients with retinitis pigmentosa.
Nishiguchi KM et al.
Japanese Journal of Ophthalmology, 2020
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