Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.E1198K
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RTEL1

NM_001283009.2:p.E1198K

Associated Papers

Emergence and Cytogenetic Clonal Evolution of Chromosome 7 Abnormalities in Myeloid Malignancies: Investigating the Role of Telomere Dysfunction.

Baldazzi C et al.

International Journal of Molecular Sciences, 2025

Telomere biology disorders may manifest as common variable immunodeficiency (CVID).

Rolles B et al.

Clinical Immunology (orlando, Fla.), 2023

Genomic characterization of lymphomas in patients with inborn errors of immunity.

Ye X et al.

Blood Advances, 2022

35687490 (PubMed )
Supplement: advancesADV2021006654-suppl8.xlsx › Sheet2
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