Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.A880V
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TERT

NM_198253.3:p.A880V

Associated Papers

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

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

Androgen derivatives improve blood counts and elongate telomere length in adult cryptic dyskeratosis congenita.

Kirschner M et al.

British Journal of Haematology, 2021

Recurrent somatic mutations are rare in patients with cryptic dyskeratosis congenita.

Kirschner M et al.

Leukemia, 2018

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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."