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Analysis of the effects of rare variants on splicing identifies alterations in GABA(A) receptor genes in autism spectrum disorder individuals

A large-scale sequencing screen of X-linked synaptic genes in individuals with autism spectrum disorder (ASD) or schizophrenia (SCZ), two common neurodevelopmental disorders, identified many variants most of which have no easily predictable effect on gene function. In this report, we evaluated the i...

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Autori principali: Piton, Amélie, Jouan, Loubna, Rochefort, Daniel, Dobrzeniecka, Sylvia, Lachapelle, Karine, Dion, Patrick A, Gauthier, Julie, Rouleau, Guy A
Natura: Artigo
Lingua:Inglês
Pubblicazione: Nature Publishing Group 2013
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Accesso online:https://ncbi.nlm.nih.gov/pmc/articles/PMC3722945/
https://ncbi.nlm.nih.gov/pubmed/23169495
https://ncbi.nlm.nih.govhttp://dx.doi.org/10.1038/ejhg.2012.243
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