Varaico: Literature-Extracted Genetic Variants

Gene:TNFRSF9
Variant:p.G57fs
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TNFRSF9

NM_001561.6:p.G57fs

Associated Papers

Homozygous Loss of Function PIK3CD Mutation in Multiple Siblings Leading To B Cell Dysregulation and Autoimmunity.

Alajlan H et al.

Journal of Clinical Immunology, 2025

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

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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."