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Biallelic loss-of-function variants in RABGAP1cause a novel neurodevelopmental syndrome
- Source :
- Genetics in Medicine; November 2022, Vol. 24 Issue: 11 p2399-2407, 9p
- Publication Year :
- 2022
-
Abstract
- RABGAP1 is a GTPase-activating protein implicated in a variety of cellular and molecular processes, including mitosis, cell migration, vesicular trafficking, and mTOR signaling. There are no known Mendelian diseases caused by variants in RABGAP1.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 24
- Issue :
- 11
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs61982726
- Full Text :
- https://doi.org/10.1016/j.gim.2022.07.024