Long-read genome sequencing identifies cryptic structural variants in congenital aniridia cases

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Authors: Damián, A., Núñez-Moreno, G., Jubin, C. et al.

Journal title: Human Genomics

Journal number: 17

Journal publisher: Springer Nature

Published year: 2023

DOI identifier: 10.1186/s40246-023-00490-8

ISSN: 1479-7364