Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.E555K
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TERT

NM_198253.3:p.E555K

Associated Papers

TERT de novo mutation-associated dyskeratosis congenita and porto-sinusoidal vascular disease: a case report.

Yu G et al.

Journal of Medical Case Reports, 2025

Dyskeratosis congenita associated with a novel missense variant in TERT: Approach for the dermatologists.

Neri Morales C et al.

Archives of Dermatological Research, 2024

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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."