Article
Novel Copy Number Deletion involving NUS1 associated with Epilepsy, Tremor, and Intellectual Disability
2024-03-30
Abstract excerpt
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
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Identifiers and source
- Literature Corpus work
- f72666ca-f2e8-5460-bdaf-53115356d5fd
- DOI
- 10.22541/au.171179572.23461057/v1
