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PDFDevelopmental defects
Short report
Complex structural variation and nonsense variant in trans cause VPS50-related disorder
- Correspondence to Professor Kerstin Kutsche, University Medical Center Hamburg-Eppendorf, Institute of Human Genetics, Hamburg, Germany; kkutsche{at}uke.de
Citation
Complex structural variation and nonsense variant in trans cause VPS50-related disorder
Publication history
- Received March 11, 2024
- Accepted June 1, 2024
- First published June 14, 2024.
Online issue publication
August 29, 2024
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© Author(s) (or their employer(s)) 2024. No commercial re-use. See rights and permissions. Published by BMJ.