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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:RTEL1

Variant:p.Q1042_Q1044delins

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RTEL1

NM_001283009.2:p.Q1042_Q1044delins

hg38:chr20:63694757 ACCAC>CCCAG

Associated Papers

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

Rolles B et al.

Clinical Immunology (orlando, Fla.), 2023

37944684 (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."