Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R756C
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TERT

NM_198253.3:p.R756C

Associated Papers

Allogeneic stem cell transplantation from variant-carrying family donors leads to long-term engraftment in Telomere Biology Disorders.

Güzel N et al.

Blood Cancer Journal, 2025

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

Immunogenomic analysis of human brain metastases reveals diverse immune landscapes across genetically distinct tumors.

Álvarez-Prado ÁF et al.

Cell Reports. Medicine, 2023

36652909 (PubMed )
Supplement: mmc4.xlsx › BrM_Val1

Evaluation of Correlations between Genetic Variants and High-Resolution Computed Tomography Patterns in Idiopathic Pulmonary Fibrosis.

Baratella E et al.

Diagnostics (basel, Switzerland), 2021

Heterozygous RTEL1 variants in bone marrow failure and myeloid neoplasms.

Marsh JCW et al.

Blood Advances, 2018

Pleuroparenchymal fibroelastosis associated with telomerase reverse transcriptase mutations.

Nunes H et al.

The European Respiratory Journal, 2017

Pulmonary arteriovenous malformations: an uncharacterised phenotype of dyskeratosis congenita and related telomere biology disorders.

Khincha PP et al.

The European Respiratory Journal, 2017

Lung transplantation in telomerase mutation carriers with pulmonary fibrosis.

Silhan LL et al.

The European Respiratory Journal, 2014

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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."