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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 case of de novo splice site variant in SLC35A2 showing developmental delays, spastic paraplegia, and delayed myelination |
| Journal | Formal name：Molecular Genetics and Genomic Medicine Abbreviation：Mol Genet Genomic Med ISSN code：2324-9269 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 7,pp.e814 |
| Author and coauthor | Miyamoto s, Nakashima M, Ohashi T, Hiraide T, Kurosawa K, Yamamoto T, Takanashi J, Osaka H, Inoue K, Miyazaki T, Wada Y, Okamoto N, Saitsu H |
| Publication date | 2019/06 |
| DOI | 10.1002/mgg3.814 |