Minigene Splicing Assays and Long-Read Sequencing to Unravel Pathogenic Deep-Intronic Variants in PAX6 in Congenital Aniridia.

Autor: Tamayo, Alejandra1,2,3 (AUTHOR), Núñez-Moreno, Gonzalo1,2,4 (AUTHOR), Ruiz, Carolina1 (AUTHOR), Plaisancie, Julie5,6 (AUTHOR), Damian, Alejandra1,2 (AUTHOR), Moya, Jennifer1 (AUTHOR), Chassaing, Nicolas5,6 (AUTHOR), Calvas, Patrick5,6 (AUTHOR), Ayuso, Carmen1,2 (AUTHOR), Minguez, Pablo1,2,4 (AUTHOR), Corton, Marta1,2 (AUTHOR) mcorton@fjd.es
Zdroj: International Journal of Molecular Sciences. Jan2023, Vol. 24 Issue 2, p1562. 15p.
Databáze: Academic Search Ultimate
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