Mouse models of SYNGAP1-related intellectual disability

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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 (NDDs). These mutations are highly penetrant and cause SYNGAP1-related intellectual disa...

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Detalles Bibliográficos
Autores principales: Araki, Yoichi, Gerber, Elizabeth E., Rajkovich, Kacey E., Hong, Ingie, Johnson, Richard C., Lee, Hey-Kyoung, Kirkwood, Alfredo, Huganir, Richard L.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: National Academy of Sciences 2023
Materias:
Biological Sciences
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC10500186/
https://www.ncbi.nlm.nih.gov/pubmed/37669379
http://dx.doi.org/10.1073/pnas.2308891120
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