Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V747delFs
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TERT

NM_198253.3:p.V747delFs

Associated Papers

Rare variants and survival of patients with idiopathic pulmonary fibrosis: analysis of a multicentre, observational cohort study with independent validation.

Alonso-González A et al.

The Lancet. Respiratory Medicine, 2025

40311650 (PubMed )
Supplement: mmc1.pdf

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

Genotype and Associated Cancer Risk in Individuals With Telomere Biology Disorders.

Niewisch MR et al.

Jama Network Open, 2024

39661387 (PubMed )
Supplement: jamanetwopen-e2450111-s001.pdf

Utility of whole genome sequencing in assessing risk and clinically relevant outcomes for pulmonary fibrosis.

Zhang D et al.

The European Respiratory Journal, 2022

Molecular genetics of idiopathic pulmonary fibrosis.

Mustafin RN

Vavilovskii Zhurnal Genetiki I Selektsii, 2022

Somatic mutations in telomerase promoter counterbalance germline loss-of-function mutations.

Maryoung L et al.

The Journal of Clinical Investigation, 2017

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Regarding the variants extracted from papers and shown text snippets from research papers, the following holds: "Some rights reserved. This work permits non-commercial use, distribution and reproduction in any medium, provided the original author and source are credited."