Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V747fs
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TERT

NM_198253.3:p.V747fs

Associated Papers

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

Idiopathic pulmonary fibrosis: update on genetic discoveries.

Garcia CK

Proceedings of the American Thoracic Society, 2011

Medical genetics and epigenetics of telomerase.

Koziel JE et al.

Journal of Cellular and Molecular Medicine, 2011

Telomere lengths, pulmonary fibrosis and telomerase (TERT) mutations.

Diaz de Leon A et al.

Plos One, 2010

Genetic and environmental factors influencing human diseases with telomere dysfunction.

Ly H

International Journal of Clinical and Experimental Medicine, 2009

Telomere shortening in familial and sporadic pulmonary fibrosis.

Cronkhite JT et al.

American Journal of Respiratory and Critical Care Medicine, 2008

Telomere maintenance and human bone marrow failure.

Calado RT et al.

Blood, 2008

Human diseases of telomerase dysfunction: insights into tissue aging.

Garcia CK et al.

Nucleic Acids Research, 2007

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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."