Many disease-associated variants of hTERT retain high telomerase enzymatic activity.

Zaug AJ, Crary SM, Jesse Fioravanti M, Campbell K, Cech TR
Nucleic Acids Res. 2013 Oct;41(19):8969-78. doi: 10.1093/nar/gkt653. Epub 2013 Jul 30. PubMed Article

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