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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...
Αποθηκεύτηκε σε:
| Κύριοι συγγραφείς: | , , , , , , , |
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| Μορφή: | Artigo |
| Γλώσσα: | Inglês |
| Έκδοση: |
Nature Publishing Group
2013
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| Θέματα: | |
| Διαθέσιμο 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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