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Article

Pathogenic TERT promoter variants in telomere diseases

6 Dec 2018

Abstract excerpt

PURPOSE: The acquisition of pathogenic variants in the TERT promoter (TERTp) region is a mechanism of tumorigenesis. In nonmalignant diseases, TERTp variants have been reported only in patients with idiopathic pulmonary fibrosis (IPF) due to germline variants in telomere biology genes. METHODS: We screened patients with a broad spectrum of telomeropathies (n = 136), their relatives (n = 52), and controls (n =...

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Share to Biomedical Research and Pathophysiology
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Methodology Data sources Editorial policy Privacy About Contact Helena Bioinformatics

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PMID: 30523342
DOI: 10.1038/s41436-018-0385-x

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