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Novel Copy Number Deletion involving NUS1 associated with Epilepsy, Tremor, and Intellectual Disability
  • +4
  • Gholson Lyon,
  • Jing Y. Hsu,
  • Daniah H. Ibrahim,
  • Riza Ali,
  • Elaine Marchi,
  • Maureen Gavin,
  • Karen Amble
Gholson Lyon
Institute for Basic Research Department of Human Genetics

Corresponding Author:[email protected]

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Jing Y. Hsu
Rosalind Franklin University of Medicine and Science Chicago Medical School
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Daniah H. Ibrahim
Rosalind Franklin University of Medicine and Science Chicago Medical School
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Riza Ali
Rosalind Franklin University of Medicine and Science Chicago Medical School
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Elaine Marchi
Institute for Basic Research Department of Human Genetics
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Maureen Gavin
New York State Institute for Basic Research in Developmental Disabilities
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Karen Amble
New York State Institute for Basic Research in Developmental Disabilities
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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
12 Feb 2024Submitted to Clinical Case Reports
14 Feb 2024Submission Checks Completed
14 Feb 2024Assigned to Editor
16 Feb 2024Reviewer(s) Assigned
06 Jul 2024Editorial Decision: Revise Minor
26 Jul 20241st Revision Received
31 Jul 2024Submission Checks Completed
31 Jul 2024Assigned to Editor
31 Jul 2024Review(s) Completed, Editorial Evaluation Pending
27 Aug 2024Editorial Decision: Revise Minor
28 Aug 20242nd Revision Received
04 Sep 2024Submission Checks Completed
04 Sep 2024Assigned to Editor
04 Sep 2024Review(s) Completed, Editorial Evaluation Pending