Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.T997fs
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RTEL1

NM_001283009.2:p.T997fs

Associated Papers

ATM-dependent DNA damage response constrains cell growth and drives clonal hematopoiesis in telomere biology disorders.

Sande CM et al.

The Journal of Clinical Investigation, 2025

40179146 (PubMed )
Supplement: jci-135-181659-s295.pdf

Implementation of a prospective screening strategy to identify adults with a telomere biology disorder among those undergoing lung transplant evaluation for interstitial lung disease.

Banaszak LG et al.

Respiratory Medicine, 2023

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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."