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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTEL1

Variant:p.S487C

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RTEL1

NM_001283009.2:p.S487C

hg38:chr20:63687749 C>G

Associated Papers

Targeted deep sequencing identifies mosaicism in patients with immune dysregulation.

Schmitz EG et al.

The Journal of Allergy and Clinical Immunology, 2026

41654260 (PubMed )

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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."