Varaico: Literature-Extracted Genetic Variants

Gene:XIAP
Variant:p.N226H
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XIAP

NM_001167.4:p.N226H

Associated Papers

CD137 deficiency because of two novel biallelic TNFRSF9 mutations in a patient presenting with severe EBV-associated lymphoproliferative disease.

Shen K et al.

Clinical & Translational Immunology, 2023

37144041 (PubMed )
Supplement: CTI2-12-e1448-s001.pdf
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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."