A novel de novo variant in CASK causes a severe neurodevelopmental disorder that masks the phenotype of a novel de novo variant in EEF2
| Autor: | María Elena Rodríguez-García, Francisco Javier Cotrina-Vinagre, Alexandra N. Olson, María Teresa Sánchez-Calvin, Ana Martínez de Aragón, Rogelio Simón de Las Heras, Jonathan D. Dinman, Bert B. A. de Vries, Maria João Nabais Sá, Pilar Quijada-Fraile, Francisco Martínez-Azorín |
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| Rok vydání: | 2023 |
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| Zdroj: | Journal of Human Genetics. |
| ISSN: | 1435-232X 1434-5161 |
| DOI: | 10.1038/s10038-023-01150-4 |
| Databáze: | OpenAIRE |
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