Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene.
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| Title: | Long-read sequencing improves the genetic diagnosis of retinitis pigmentosa by identifying an Alu retrotransposon insertion in the EYS gene. |
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| Authors: | Fernández-Suárez, Elena1,2 (AUTHOR), González-del Pozo, María1,2 (AUTHOR), Méndez-Vidal, Cristina1,2 (AUTHOR), Martín-Sánchez, Marta1,2 (AUTHOR), Mena, Marcela1,2 (AUTHOR), de la Morena-Barrio, Belén3 (AUTHOR), Corral, Javier3 (AUTHOR), Borrego, Salud1,2 (AUTHOR) salud.borrego.sspa@juntadeandalucia.es, Antiñolo, Guillermo1,2 (AUTHOR) gantinolo@us.es |
| Source: | Mobile DNA. 5/4/2024, Vol. 15 Issue 1, p1-12. 12p. |
| Database: | Academic Search Ultimate |
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| ISSN: | 17598753 |
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| DOI: | 10.1186/s13100-024-00320-1 |
