Pathogenic TERT promoter variants in telomere diseases

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Gutierrez-Rodrigues, Fernanda; Donaires, Flávia S.; Pinto, André; Vicente, Alana; Dillon, Laura W.; Clé, Diego V.; Santana, Barbara A.; Pirooznia, Mehdi; Ibanez, Maria del Pilar F.; Townsley, Danielle M.; Kajigaya, Sachiko; Hourigan, Christopher S.; Cooper, James N.; Calado, Rodrigo T.; Young, Neal S.;

Purpose: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In non-malignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telome... View more
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