Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.A716V
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TERT

NM_198253.3:p.A716V

Associated Papers

A First-in-Human Study of ATM Inhibitor Lartesertib as Monotherapy in Patients with Advanced Solid Tumors.

Siu LL et al.

Clinical Cancer Research : an Official Journal of the American Association for Cancer Research, 2025

40875525 (PubMed )
Supplement: ccr-25-1648_supplementary_table_s5_suppts5.xlsx › Sheet1

Late-onset telomere biology disorders in adults: clinical insights and treatment outcomes from a retrospective registry cohort.

Tometten M et al.

Blood Advances, 2025

39938003 (PubMed )
Supplement: BLOODA_ADV-2024-014632-mmc1.pdf

Multi-locus inherited neoplasia alleles syndromes in cancer: implications for clinical practice.

Yuen J et al.

European Journal of Human Genetics : Ejhg, 2025

39843919 (PubMed )
Supplement: 41431_2025_1785_MOESM2_ESM.pdf

The evolving genetic landscape of telomere biology disorder dyskeratosis congenita.

Tummala H et al.

Embo Molecular Medicine, 2024

39198715 (PubMed )
Supplement: 44321_2024_118_MOESM4_ESM.xlsx › Dataset_EV1

Telomerase RNA-based aptamers restore defective myelopoiesis in congenital neutropenic syndromes.

Martínez-Balsalobre E et al.

Nature Communications, 2023

Altered Nucleotide Insertion Mechanisms of Disease-Associated TERT Variants.

Welfer GA et al.

Genes, 2023

Transient elastography in adult patients with cryptic dyskeratosis congenita reveals subclinical liver fibrosis: a retrospective analysis of the Aachen telomere biology disease registry.

Tometten M et al.

Orphanet Journal of Rare Diseases, 2021

Telomerase RNA recruits RNA polymerase II to target gene promoters to enhance myelopoiesis.

García-Castillo J et al.

Proceedings of the National Academy of Sciences of the United States of America, 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

Comparable Effects of the Androgen Derivatives Danazol, Oxymetholone and Nandrolone on Telomerase Activity in Human Primary Hematopoietic Cells from Patients with Dyskeratosis Congenita.

Vieri M et al.

International Journal of Molecular Sciences, 2020

Differences in disease severity but similar telomere lengths in genetic subgroups of patients with telomerase and shelterin mutations.

Vulliamy TJ et al.

Plos One, 2011

TERC and TERT gene mutations in patients with bone marrow failure and the significance of telomere length measurements.

Du HY et al.

Blood, 2009

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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."