Varaico: Literature-Extracted Genetic Variants

Gene:RTEL1
Variant:p.C1242Y
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RTEL1

NM_001283009.2:p.C1242Y

Associated Papers

Genomic Landscape of Susceptibility to Severe COVID-19 in the Slovenian Population.

Kovanda A et al.

International Journal of Molecular Sciences, 2024

39062917 (PubMed )
Supplement: ijms-25-07674-s001.zip › Supplementary_table_3.xlsx › ACMG_classified_variants

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

Rolles B et al.

Clinical Immunology (orlando, Fla.), 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."