Functional validation of TERT and TERC variants of uncertain significance in patients with short telomere syndromes

Blood Cancer J. 2020 Nov 17;10(11):120. doi: 10.1038/s41408-020-00386-z.
No abstract available

Publication types

  • Case Reports
  • Letter
  • Validation Study

MeSH terms

  • Adult
  • Aged
  • Female
  • Humans
  • Male
  • Middle Aged
  • RNA / metabolism*
  • Syndrome
  • Telomerase / metabolism*
  • Telomere Shortening*

Substances

  • telomerase RNA
  • RNA
  • TERT protein, human
  • Telomerase