Acharya, A., Raza, S. I., Anwar, M. Z., Bharadwaj, T., Liaqat, K., Khokhar, M. A. S., Everard, J. L., Nasir, A., Nickerson, D. A., Bamshad, M. J., Ansar, M., Schrauwen, I., Ahmad, W., & Leal, S. M. (2021). Wolfram-like syndrome with bicuspid aortic valve due to a homozygous missense variant in CDK13. Journal of Human Genetics, 66(10), 1009–1018. https://doi.org/10.1038/s10038-021-00922-0
Subjects:
Endoplasmic Reticulum Stress and Unfolded Protein Response
(OpenAlex Topic)
Functions and Regulation of RNA Editing by ADARs
(OpenAlex Topic)
RNA Methylation and Modification in Gene Expression
(OpenAlex Topic)
CDC2 Protein Kinase
(MeSH)
Deafness
(MeSH)
Optic Atrophy
(MeSH)
Wolfram Syndrome
(MeSH)
Grants:
U54HG006493
(NIH – National Human Genome Research Institute)
UM1HG006493
(NIH – National Human Genome Research Institute)
R01DC003594
(NIH – National Institute On Deafness and Other Communication Disorders)
R01DC011651
(NIH – National Institute On Deafness and Other Communication Disorders)
Publication Type:
Article
Unique ID:
10.1038/s10038-021-00922-0
PMID:
Journal:
Publication Date:
Data Source:
Scopus