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Genetic Generalized Epilepsy and Intrafamilial Phenotypic Variability with Distal 7q11.23 Deletion
Background: Distal 7q11.23 deletions are variably associated with epilepsy, intellectual disability and neurobehavioural abnormalities. The relative importance of different genes in this region in contributing to different phenotypes is not clear, though HIP1 and YWHAG are both thought to play impor...
| Autores principales: | , |
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| Formato: | Online Artículo Texto |
| Lenguaje: | English |
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SAGE Publications
2022
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| Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9036355/ https://www.ncbi.nlm.nih.gov/pubmed/35481155 http://dx.doi.org/10.1177/2329048X221093173 |