Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R447C
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TERT

NM_198253.3:p.R447C

Associated Papers

Whole-genome and transcriptome analysis of advanced adrenocortical cancer highlights multiple alterations affecting epigenome and DNA repair pathways.

Lavoie JM et al.

Cold Spring Harbor Molecular Case Studies, 2022

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."