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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 | Original article |
| Language | English |
| Peer review | Peer reviewed |
| Title | MED13L haploinsufficiency syndrome: A de novo frameshift and recurrent intragenic deletions due to parental mosaicism. |
| Journal | Formal name：American Journal of Medical Genetics. Part A Abbreviation：Am J Med Genet A ISSN code：15524833 |
| Domestic / Foregin | Foregin |
| Volume, Issue, Page | 173A(5),pp.1264-1269 |
| Author and coauthor | Yamamoto T, Shimojima K, Ondo Y, Shimakawa S, Okamoto N. |
| Authorship | Lead author,Corresponding author |
| Publication date | 2017/03 |
| DOI | 10.1002/ajmg.a.38168 |