Associated Papers
Hidden Splicing Variants in Inherited Retinal Degeneration: Discovery and Functional Insight.
Huang YS et al.
Investigative Ophthalmology & Visual Science, 2025
41060150 (PubMed )
Supplement: iovs-66-13-12_s002.xlsx › Table_S4-diagnosed_cases
Adult genomic medicine: lessons from a multisite study of 2700 patients.
Bakur K et al.
Genome Medicine, 2025
41024252 (PubMed )
Supplement: 13073_2025_1529_MOESM6_ESM.xlsx › Sheet1
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
Mutation spectrum and genotype-phenotype correlation of inherited retinal dystrophy in Taiwan.
Chen ZJ et al.
Clinical & Experimental Ophthalmology, 2020
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