Gain-of-Function MN1 Truncation Variants Cause a Recognizable Syndrome with Craniofacial and Brain Abnormalities
- 1 January 2020
- journal article
- research article
- Published by Elsevier in American Journal of Human Genetics
- Vol. 106 (1) , 13-25
- https://doi.org/10.1016/j.ajhg.2019.11.011
Abstract
No abstract availableKeywords
Funding Information
- AMED (JP19ek0109280, JP19dm0107090, JP19ek0109301, JP19ek0109348, JP18kk020501)
- JSPS KAKENHI (JP17H01539, JP19H03621)
- Ministry of Health, Labor, and Welfare
- Takeda Science Foundation
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