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Complex structural variation and nonsense variant in trans cause VPS50- related disorder.

Authors :
Hecher, Laura
Alberts, Esther Gorski
Begemann, Matthias
Herwig, Johanna
Lausberg, Eva
Hillebrand, Georg
Volk, Alexander E.
Kurth, Ingo
Kraft, Florian
Kutsche, Kerstin
Source :
Journal of Medical Genetics; Sep2024, Vol. 61 Issue 9, p833-838, 6p
Publication Year :
2024

Details

Language :
English
ISSN :
00222593
Volume :
61
Issue :
9
Database :
Complementary Index
Journal :
Journal of Medical Genetics
Publication Type :
Academic Journal
Accession number :
179992226
Full Text :
https://doi.org/10.1136/jmg-2024-109983