Varaico: Literature-Extracted Genetic Variants

Gene:TERT
Variant:p.F1078L
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TERT

NM_198253.3:p.F1078L

Associated Papers

Immune cells display an abnormal maturation and a proinflammatory profile in telomere biology disorders.

Gomes WR et al.

Blood Advances, 2025

Pathogenic TERT promoter variants in telomere diseases.

Gutierrez-Rodrigues F et al.

Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2019

30523342 (PubMed )
Supplement: 41436_2018_385_MOESM1_ESM.pdf
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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."