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Varaico: Literature-Extracted Genetic Variants

Include likely false extractions

Gene:XRCC6

Variant:p.Q433Q

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XRCC6

NM_001469.5:p.Q433Q

hg38:chr22:41656910 G>A

Associated Papers

Partial V(D)J recombination activity leads to Omenn syndrome.

Villa A et al.

Cell, 1998

9630231 (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."