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Missense variants in ANKRD11 cause KBG syndrome by impairment of stability or transcriptional activity of the encoded protein.
- Source :
-
Genetics in medicine : official journal of the American College of Medical Genetics [Genet Med] 2023 Nov; Vol. 25 (11), pp. 100962. Date of Electronic Publication: 2023 Sep 01. - Publication Year :
- 2023
Details
- Language :
- English
- ISSN :
- 1530-0366
- Volume :
- 25
- Issue :
- 11
- Database :
- MEDLINE
- Journal :
- Genetics in medicine : official journal of the American College of Medical Genetics
- Accession number :
- 37658852
- Full Text :
- https://doi.org/10.1016/j.gim.2023.100962