Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.T116I
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TERT

NM_198253.3:p.T116I

Associated Papers

Human RPA is an essential telomerase processivity factor for maintaining telomeres.

Agrawal S et al.

Science (new York, N.y.), 2025

POT1 mutations cause differential effects on telomere length leading to opposing disease phenotypes.

Zade NH et al.

Journal of Cellular Physiology, 2023

Telomere biology disorder prevalence and phenotypes in adults with familial hematologic and/or pulmonary presentations.

Feurstein S et al.

Blood Advances, 2020

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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."