Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.R185W
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TERT

NM_198253.3:p.R185W

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

TRAIP promotes DNA damage response during genome replication and is mutated in primordial dwarfism.

Harley ME et al.

Nature Genetics, 2016

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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."