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Biallelic variants in KARS1are associated with neurodevelopmental disorders and hearing loss recapitulated by the knockout zebrafish
- Source :
- Genetics in Medicine; October 2021, Vol. 23 Issue: 10 p1933-1943, 11p
- Publication Year :
- 2021
-
Abstract
- Pathogenic variants in Lysyl-tRNA synthetase 1 (KARS1) have increasingly been recognized as a cause of early-onset complex neurological phenotypes. To advance the timely diagnosis of KARS1-related disorders, we sought to delineate its phenotype and generate a disease model to understand its function in vivo.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 23
- Issue :
- 10
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs63385546
- Full Text :
- https://doi.org/10.1038/s41436-021-01239-1