Article
The human clinical phenotypes of altered CHRNA7 copy number.
Biochemical pharmacology - 15 Oct 2015
Gillentine Madelyn A, Schaaf Christian P
Abstract excerpt
Copy number variants (CNVs) have been implicated in multiple neuropsychiatric conditions, including autism spectrum disorder (ASD), schizophrenia, and intellectual disability (ID). Chromosome 15q13 is a hotspot for such CNVs due to the presence of low copy repeat (LCR) elements, which facilitate non-allelic homologous recombination (NAHR). Several of these CNVs have been overrepresented in individuals with...
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