Identification and functional characterization of de novo variant in the SYNGAP1 gene causing intellectual disability
Background: Intellectual disability (ID) is defined by cognitive and social adaptation defects. Variants in the SYNGAP1 gene, which encodes the brain-specific cytoplasmic protein SYNGAP1, are commonly associated with ID. The aim of this study was to identify novel SYNGAP1 gene variants in Chinese in...
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| Автори: | , , , , , , , |
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| Формат: | Artigo |
| Мова: | Inglês |
| Опубліковано: |
Frontiers Media S.A.
2023-10-01
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| Серія: | Frontiers in Genetics |
| Предмети: | |
| Онлайн доступ: | https://www.frontiersin.org/articles/10.3389/fgene.2023.1270175/full |
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