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平澤 恭子
Department Other, Other Position |
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| Article types | Case report |
| Language | English |
| Peer review | Peer reviewed |
| Title | Novel compound heterozygous EPG5 mutations consisted with a missense mutation and a microduplication in the exon 1 region identified in a Japanese patient with Vici syndrome |
| 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 | 176(12),pp.2803-2807 |
| Author and coauthor | Shimada S, Hirasawa K, Takeshita A, Nakatsukasa H, Yamamoto-Shimojima K, Imaizumi T, Nagata S, Yamamoto T |
| Publication date | 2018/12 |
| DOI | ttps://doi.org/10.1002/ajmg.a.40500 |