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Mouse models of SYNGAP1-related intellectual disability
SYNGAP1 is a Ras-GTPase activating protein highly enriched at excitatory synapses in the brain. De novo loss-of-function mutations in SYNGAP1 are a major cause of genetically defined neurodevelopmental disorders (NDD). These mutations are highly penetrant and cause SYNGAP1-related intellectual disab...
Autores principales: | Araki, Yoichi, Gerber, Elizabeth E., Rajkovich, Kacey E., Hong, Ingie, Johnson, Richard C., Lee, Hey-Kyoung, Kirkwood, Alfredo, Huganir, Richard L. |
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Formato: | Online Artículo Texto |
Lenguaje: | English |
Publicado: |
Cold Spring Harbor Laboratory
2023
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Materias: | |
Acceso en línea: | https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10245951/ https://www.ncbi.nlm.nih.gov/pubmed/37293116 http://dx.doi.org/10.1101/2023.05.25.542312 |
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