An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio

An autism spectrum disorder-related de novo mutation hotspot discovered in the GEF1 domain of Trio

Trio is a RhoGEF protein that promotes actin polymerization and is implicated in the regulation of glutamatergic synapses in autism spectrum disorder (ASD). Here the authors identify a large cluster of de novo mutations in the GEF1 domain of Trio in whole-exome sequencing data from individuals with...

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Autores principales: Anastasiia Sadybekov, Chen Tian, Cosimo Arnesano, Vsevolod Katritch, Bruce E. Herring
Formato: article
Lenguaje:EN
Publicado: Nature Portfolio 2017
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Science
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Acceso en línea:https://doaj.org/article/702daf542acd4526850de52f756d5ee1
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