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Neurodevelopmental disease-associated de novo mutations and rare sequence variants affect TRIO GDP/GTP exchange factor activity

Bipolar disorder, schizophrenia, autism and intellectual disability are complex neurodevelopmental disorders, debilitating millions of people. Therapeutic progress is limited by poor understanding of underlying molecular pathways. Using a targeted search, we identified an enrichment of de novo mutat...

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Detalles Bibliográficos
Publicado en:Hum Mol Genet
Main Authors: Katrancha, Sara M, Wu, Yi, Zhu, Minsheng, Eipper, Betty A, Koleske, Anthony J, Mains, Richard E
Formato: Artigo
Idioma:Inglês
Publicado: Oxford University Press 2017
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Acceso en liña:https://ncbi.nlm.nih.gov/pmc/articles/PMC5886096/
https://ncbi.nlm.nih.gov/pubmed/28973398
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1093/hmg/ddx355
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