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Shimojima Keiko
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Assistant Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Biallelic KCTD3 nonsense variant derived from paternal uniparental isodisomy of chromosome 1 in a patient with developmental epileptic encephalopathy and distinctive features |
| Journal | Formal name：Human Genome Variation Abbreviation：Hum Genome Var ISSN code：2054-345X |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 10,pp.22 |
| Author and coauthor | Shimojima Yamamoto K†, Yoshimura A, Yamamoto T* |
| Publication date | 2023/08/07 |
| DOI | 10.1038/s41439-023-00250-z |