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Optical genome mapping and revisiting short-read genome sequencing data reveal previously overlooked structural variants disrupting retinal disease-associated genes.
Genet Med. 2023 Mar;25(3):100345. doi: 10.1016/j.gim.2022.11.013. Epub 2022 Dec 16.
Genet Med. 2023.
PMID: 36524988
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