Investigative ophthalmology & visual science۲۰۲۵۱ استنادنمایه شده در PubMed
Yu-Shu Huang, Wen-Ting Lu, I-Hsuan Chiu, Pei-Miao Chien, Yu-An Chen, Chien-Yu Lin, Chang-Hao Yang, Chung-May Yang, Chao-Wen Lin, Jacob Shujui Hsu, Pei-Lung Chen, Ta-Ching Chen
چکیده
To enhance the molecular diagnosis of inherited retinal degeneration (IRD) by systematically identifying pathogenic splicing variants and characterizing their transcript-level consequences. We analyzed 738 IRD families who underwent targeted gene panel sequencing. A splicing variant detection…
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DOI: 10.1167/iovs.66.13.12