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YAMAMOTO Toshiyuki
Department School of Medicine(Tokyo Women's Medical University Hospital), School of Medicine Position Professor |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | A de novo U2AF2 heterozygous variant associated with hypomyelinating leukodystrophy. |
| Journal | Formal name：American Journal of Medical Genetics Part A Abbreviation：Am J Med Genet A ISSN code：1552-4833 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 191(8),pp.2245-2248 |
| Author and coauthor | Kuroda Y, Matsufuji M, Enomoto Y, Osaka H, Takanashi J-I, Yamamoto T, Numata-Uematsu Y, Tabata K, Kurosawa K, Inoue K |
| Publication date | 2023/04/22 |
| DOI | https://doi.org/10.1002/ajmg.a.63229 |