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

Alejandro FerrerAbhishek A MangaonkarSusanna StroikMichael T ZimmermannAshley N SigafoosPatrick S KamathDouglas A SimonettoMark E WylamEva M CarmonaKonstantinos N LazaridisSteve PetersKeith StewartEric W KleeEric A HendricksonMirinal S Patnaik
Published in: Blood cancer journal (2020)
Keyphrases
  • copy number
  • gene expression