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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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Библиографические подробности
Опубликовано в: :Hum Mol Genet
Главные авторы: Katrancha, Sara M, Wu, Yi, Zhu, Minsheng, Eipper, Betty A, Koleske, Anthony J, Mains, Richard E
Формат: Artigo
Язык:Inglês
Опубликовано: Oxford University Press 2017
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Online-ссылка: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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