Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.A1259fs
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RTEL1

NM_001283009.2:p.A1259fs

Associated Papers

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

Gomes WR et al.

Blood Advances, 2025

Human RTEL1 Interacts with KPNB1 (Importin β) and NUP153 and Connects Nuclear Import to Nuclear Envelope Stability in S-Phase.

Schertzer M et al.

Cells, 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."