A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome.
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| Title: | A Novel Deep Intronic Variant in NSD1 Causing Sotos Syndrome. |
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| Authors: | Parra, Alejandro1,2,3,4, alejandro.parra.externo@salud.madrid.org, Cazalla, Mario1,2,3,4, Jimenez‐Estrada, Juan A.2, Silván, Cristina2, Miranda‐Alcaraz, Lucía1,2,3,4, Gallego‐Zazo, Natalia1,2,3, Mora‐Gómez, Mónica1,2,3,4, Rodríguez‐Canó, Manuel1,2,3,4, Arias, Pedro1,2,3, Rodríguez‐Antolín, Carlos2, Nevado, Julián1,2,3, Ruiz Pérez, Víctor Luis1,3,5, Tenorio‐Castano, Jair1,2,3, Lapunzina, Pablo1,2,3, plapunzina@ciberer.es |
| Source: | American Journal of Medical Genetics. Part A; Aug2025, Vol. 197 Issue 8, p1-4, 4p |
| Database: | Applied Science & Technology Source |
| ISSN: | 15524825 |
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| DOI: | 10.1002/ajmg.a.64074 |
