Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.V84E
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TERT

NM_198253.3:p.V84E

Associated Papers

Clinical mutations in the TERT and TERC genes coding for telomerase components induced oxidative stress, DNA damage at telomeres and cell apoptosis besides decreased telomerase activity.

Fernández-Varas B et al.

Human Molecular Genetics, 2024

Genetic analyses of aplastic anemia and idiopathic pulmonary fibrosis patients with short telomeres, possible implication of DNA-repair genes.

Arias-Salgado EG et al.

Orphanet Journal of Rare Diseases, 2019

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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."