Rare copy number variants in ASTN2 gene in patients with neurodevelopmental disorders

Conclusion The CNVs reported here involve regions not usually disrupted in patients with NDDs with two of them affecting only the expression of the long isoforms. Further studies will be needed to analyze the impact of these CNVs on gene expression regulation and to better understand their impact on the protein function.
Source: Psychiatric Genetics - Category: Genetics & Stem Cells Tags: Original Articles Source Type: research