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Pathogenic TERTpromoter variants in telomere diseases
- Source :
- Genetics in Medicine; July 2019, Vol. 21 Issue: 7 p1594-1602, 9p
- Publication Year :
- 2019
-
Abstract
- The acquisition of pathogenic variants in the TERTpromoter (TERTp)region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTpvariants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes.
Details
- Language :
- English
- ISSN :
- 10983600 and 15300366
- Volume :
- 21
- Issue :
- 7
- Database :
- Supplemental Index
- Journal :
- Genetics in Medicine
- Publication Type :
- Periodical
- Accession number :
- ejs59920031
- Full Text :
- https://doi.org/10.1038/s41436-018-0385-x