Triallelic and epigenetic-like inheritance in human disorders of telomerase.
Blood
Collopy, Laura C LC; Walne, Amanda J AJ; Cardoso, Shirleny S; de la Fuente, Josu J; Mohamed, Mahfuzah M; Toriello, Helga H; Tamary, Hannah H; Ling, Adam J Y V AJ; Lloyd, Timothy T; Kassam, Rebecca R; Tummala, Hemanth H; Vulliamy, Thomas J TJ; Dokal, Inderjeet I
Publication Date: 2015-07-09
Variant appearance in text: TERT: 2113G>C; Glu705Gln