Novel Copy Number Deletion involving NUS1 associated with Epilepsy,
Tremor, and Intellectual Disability
Abstract
Copy number variations (CNVs), among other genetic abnormalities, have
been implicated in a range of disorders and can result in a variety of
clinical manifestations, such as intellectual disability, developmental
disorders, and cancer. The role of specific genes within such CNVs,
especially novel or rare genes, is the subject of ever-advancing