Functional analysis of a novel de novo variant in PPP5C associated with microcephaly, seizures, and developmental delay
| Autor: | Fielder, Sara M., Rosenfeld, Jill A., Burrage, Lindsay C., Emrick, Lisa, Lalani, Seema, Attali, Ruben, Bembenek, Joshua N., Hoang, Hieu, Baldridge, Dustin, Silverman, Gary A., Schedl, Tim, Pak, Stephen C. |
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| Zdroj: | In Molecular Genetics and Metabolism May 2022 136(1):65-73 |
| Databáze: | ScienceDirect |
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