Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R577W
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TERT

NM_198253.3:p.R577W

Associated Papers

The interplay of mutagenesis and ecDNA shapes urothelial cancer evolution.

Nguyen DD et al.

Nature, 2024

39385020 (PubMed )
Supplement: 41586_2024_7955_MOESM11_ESM.xlsx › Figure_3e

Pulmonary fibrosis in non-mutation carriers of families with short telomere syndrome gene mutations.

van der Vis JJ et al.

Respirology (carlton, Vic.), 2021

Safety and efficacy of pirfenidone and nintedanib in patients with idiopathic pulmonary fibrosis and carrying a telomere-related gene mutation.

Justet A et al.

The European Respiratory Journal, 2021

Mandibulofacial dysostosis (Treacher-Collins syndrome) in the fetus: novel association with Pectus carinatum in a molecularly confirmed case and review of the fetal phenotype.

Konstantinidou AE et al.

Birth Defects Research. Part A, Clinical and Molecular Teratology, 2013

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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."